Varaico: Literature-Extracted Genetic Variants

Gene:DRC2
Variant:p.R157Splc

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.R157Splc
c.471-29G>A
Surrounding Variants
1 paper
NM_033124.5
p.R157Splc
c.471-28A>G
1 paper
NM_033124.5
p.R157Splc
c.471-7C>G
1 paper
NM_033124.5
p.E165delFs
c.494delA
1 paper
NM_033124.5
p.E165fs
c.493_494fs
3 papers
NM_033124.5
p.H169N
c.505C>A
1 paper
NM_033124.5
p.M178L
c.532A>C
1 paper
NM_033124.5
p.M178L
c.532A>T
3 papers
NM_033124.5
p.E220*
c.658G>T
1 paper
NM_033124.5
p.Q227R
c.680A>G
1 paper
NM_033124.5
p.Y233delFs
c.699delC
1 paper
NM_033124.5
p.R240*
c.718C>T
2 papers
NM_033124.5
p.E257D
c.771G>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."