Varaico: Literature-Extracted Genetic Variants

Gene:DRC2
Variant:p.D447D

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.D447D
c.1341C>T
Surrounding Variants
1 paper
NM_033124.5
p.E448K
c.1342G>A
1 paper
NM_033124.5
p.L436P
c.1307T>C
1 paper
NM_033124.5
p.D427G
c.1280A>G
1 paper
NM_033124.5
p.R422Q
c.1265G>A
1 paper
NM_033124.5
p.H420delFs
c.1259delA
4 papers
NM_033124.5
p.Y408C
c.1223A>G
1 paper
NM_033124.5
p.N403fs
c.1207_1208fs
2 papers
NM_033124.5
p.N403delFs
c.1208delA
1 paper
NM_033124.5
p.E402V
c.1205A>T
1 paper
NM_033124.5
p.K393_V394Splc
c.1180-2A>G
1 paper
NM_033124.5
p.T392T
c.1176C>A
1 paper
NM_033124.5
p.L391L
c.1173C>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."