Varaico: Literature-Extracted Genetic Variants

Gene:DRC2
Variant:p.V302L

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.V302L
c.904G>T
Surrounding Variants
1 paper
NM_033124.5
p.V302L
c.904G>C
2 papers
NM_033124.5
p.R305*
c.913C>T
NM_001286957.2
p.R162*
c.484C>T
1 paper
NM_033124.5
p.D296Y
c.886G>T
1 paper
NM_033124.5
p.R294C
c.880C>T
1 paper
NM_033124.5
p.I293T
c.878T>C
3 papers
NM_033124.5
p.I293fs
c.877_878fs
5 papers
NM_033124.5
p.I293fs
c.877_878fs
1 paper
NM_033124.5
p.Y292C
c.875A>G
1 paper
NM_033124.5
p.R311R
c.933A>G
1 paper
NM_033124.5
p.T312A
c.934A>G
8 papers
NM_033124.5
p.I293delFs
c.877_878delAT
1 paper
NM_033124.5
p.Q313*
c.937C>T
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