Varaico: Literature-Extracted Genetic Variants

Gene:DRC8

DRC8

24 papers

RefSeq Summary

The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, ...

Gene Aliases

HGNC Name

dynein regulatory complex subunit 8

HGNC Previous Symbol

EFCAB2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
2 papers
NM_032328.4
p.T51M
c.152C>T
2 papers
NM_032328.4
p.R87S
c.261A>C
2 papers
NM_032328.4
p.R87S
c.261A>T
2 papers
NM_032328.4
p.R109C
c.325C>T
1 paper
NM_032328.4
p.K5*
c.13A>T
1 paper
NM_032328.4
p.E9Splc
c.25+1G>A
1 paper
NM_032328.4
p.E9Splc
c.26-15073G>A
1 paper
NM_032328.4
p.A13T
c.37G>A
1 paper
NM_032328.4
p.A22A
c.66A>G
1 paper
NM_032328.4
p.S30L
c.89C>T
1 paper
NM_032328.4
p.I39V
c.115A>G
1 paper
NM_032328.4
p.G40E
c.119G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."