Varaico: Literature-Extracted Genetic Variants

Gene:DRC2
Variant:p.L18R

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.L18R
c.53T>G
Surrounding Variants
1 paper
NM_033124.5
p.K16R
c.47A>G
1 paper
NM_033124.5
p.L26M
c.76C>A
1 paper
NM_033124.5
p.E30D
c.90G>C
1 paper
NM_033124.5
p.M1K
c.2T>A
3 papers
NM_033124.5
p.M1insFs
c.2dupT
1 paper
NM_033124.5
p.S40T
c.119G>C
1 paper
NM_033124.5
p.K49*
c.145A>T
1 paper
NM_033124.5
p.E51K
c.151G>A
1 paper
NM_033124.5
p.Q64*
c.190C>T
1 paper
NM_033124.5
p.R90*
c.268C>T
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