Varaico: Literature-Extracted Genetic Variants

Gene:DRC2
Variant:p.Q227R

DRC2

78 papers

RefSeq Summary

This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex....

Pfam Domains

NYD-SP28aa 23–124UCSCSperm tail

Gene Aliases

HGNC Name

dynein regulatory complex subunit 2

HGNC Previous Symbol

CCDC65

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033124.5
p.Q227R
c.680A>G
Surrounding Variants
1 paper
NM_033124.5
p.Y233delFs
c.699delC
3 papers
NM_033124.5
p.E220*
c.658G>T
1 paper
NM_033124.5
p.R240*
c.718C>T
2 papers
NM_033124.5
p.E257D
c.771G>C
2 papers
NM_033124.5
p.E257D
c.771G>T
2 papers
NM_033124.5
p.I258T
c.773T>C
1 paper
NM_033124.5
p.M262insFs
c.786dupG
1 paper
NM_033124.5
p.K263fs
c.787_788fs
1 paper
NM_033124.5
p.I265fs
c.793_794fs
1 paper
NM_033124.5
p.I265fs
c.793_794fs
1 paper
NM_033124.5
p.Q269_D270Splc
c.808-36C>T
1 paper
NM_001286957.2
p.A128insFs
c.383_384insA
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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."