SHC1

Chr 1

SHC adaptor protein 1

Also known as: SHC, SHCA

This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…
0
Active trials
40
Pubs (1 yr)
P/LP submissions
P/LP missense
0.65
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.002
Z-score 2.87
OE 0.37 (0.220.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.33Z-score
OE missense 0.80 (0.730.89)
289 obs / 359.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.220.65)
00.351.4
Missense OE?0.80 (0.730.89)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 9 / 24.2Missense obs/exp: 289 / 359.8Syn Z: -0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SHC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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