Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.Q510E

CFAP43

111 papers

RefSeq Summary

This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016].

Pfam Domains

CC_Cfap43aa 786–1662UCSCCfap43 coiled coil

Gene Aliases

HGNC Name

cilia and flagella associated protein 43

HGNC Previous Symbols

C10orf79; WDR96

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025145.7
p.Q510E
c.1528C>G
Surrounding Variants
5 papers
NM_025145.7
p.G492R
c.1474G>C
1 paper
NM_025145.7
p.G492R
c.1474G>A
3 papers
NM_025145.7
p.V481Splc
c.1442+1G>A
2 papers
NM_025145.7
p.V480I
c.1438G>A
4 papers
NM_025145.7
p.S473L
c.1418C>T
1 paper
NM_025145.7
p.G447G
c.1341C>A
2 papers
NM_025145.7
p.L435fs
c.1303_1304fs
4 papers
NM_025145.7
p.V434insFs
c.1302dupT
2 papers
NM_025145.7
p.T526fs
c.1576_1577fs
3 papers
NM_025145.7
p.T526delFs
c.1577_1578delTG
1 paper
NM_025145.7
p.D533N
c.1597G>A
1 paper
NM_025145.7
p.S542W
c.1625C>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."