Varaico: Literature-Extracted Genetic Variants

Gene:DRC2
Variant:p.S141N

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.S141N
c.422G>A
Surrounding Variants
1 paper
NM_033124.5
p.E139K
c.415G>A
1 paper
NM_033124.5
p.E139Q
c.415G>C
2 papers
NM_033124.5
p.E147*
c.439G>T
3 papers
NM_033124.5
p.H133R
c.398A>G
1 paper
NM_033124.5
p.H133Y
c.397C>T
1 paper
NM_033124.5
p.T150N
c.449C>A
1 paper
NM_033124.5
p.R157Splc
c.470+3A>G
1 paper
NM_033124.5
p.A116V
c.347C>T
1 paper
NM_033124.5
p.E111*
c.331G>T
1 paper
NM_033124.5
p.K100_S101Splc
c.301-2A>C
1 paper
NM_033124.5
p.R157Splc
c.471-29G>A
1 paper
NM_033124.5
p.R157Splc
c.471-28A>G
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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."