ABCC10

Chr 6

ATP binding cassette subfamily C member 10

Also known as: EST182763, MRP7, SIMRP7

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…
0
Active trials
16
Pubs (1 yr)
P/LP submissions
P/LP missense
0.94
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?
0.94LOEUF
pLI 0.000
Z-score 1.95
OE 0.74 (0.590.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.65Z-score
OE missense 0.94 (0.890.99)
825 obs / 879.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.590.94)
00.351.4
Missense OE?0.94 (0.890.99)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 50 / 67.3Missense obs/exp: 825 / 879.6Syn Z: 0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ABCC10 · 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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