Varaico: Literature-Extracted Genetic Variants

Gene:DRC8
Variant:p.E54Q

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
Selected Variant
1 paper
NM_032328.4
p.E54Q
c.160G>C
Surrounding Variants
2 papers
NM_032328.4
p.T51M
c.152C>T
1 paper
NM_032328.4
p.G47R
c.139G>A
1 paper
NM_032328.4
p.G47R
c.139G>C
1 paper
NM_032328.4
p.G40E
c.119G>A
1 paper
NM_032328.4
p.I39V
c.115A>G
1 paper
NM_032328.4
p.E61_V62Splc
c.183+8063T>C
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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."