Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.S129Y

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
6 papers
NM_025145.7
p.S129Y
c.386C>A
Surrounding Variants
1 paper
NM_025145.7
p.A126_S127delFs
c.378_379delTA
1 paper
NM_025145.7
p.D112delFs
c.335_336delGT
3 papers
NM_025145.7
p.D112V
c.335A>T
1 paper
NM_025145.7
p.L110F
c.328C>T
1 paper
NM_025145.7
p.I109I
c.327T>A
1 paper
NM_025145.7
p.G107Splc
c.319+3A>C
1 paper
NM_025145.7
p.T103N
c.308C>A
1 paper
NM_025145.7
p.V93A
c.278T>C
1 paper
NM_025145.7
p.P89L
c.266C>T
8 papers
NM_025145.7
p.R85W
c.253C>T
1 paper
NM_025145.7
p.I75_V80insFs
c.224_240dup17
1 paper
NM_025145.7
p.V48_I49del1
c.143_145delTTA
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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."