Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.E1221fs

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
2 papers
NM_025145.7
p.E1221fs
c.3661_3662fs
Surrounding Variants
1 paper
NM_025145.7
p.Q1220_E1221Splc
c.3661-2A>C
1 paper
NM_025145.7
p.N1227S
c.3680A>G
1 paper
NM_025145.7
p.L1228H
c.3683T>A
1 paper
NM_025145.7
p.Y1248F
c.3743A>T
1 paper
NM_025145.7
p.K1256_S1257Splc
c.3768+1G>A
1 paper
NM_025145.7
p.K1256del1
c.3766_3767delTTT
1 paper
NM_025145.7
p.R1264W
c.3790C>T
1 paper
NM_025145.7
p.L1270P
c.3809T>C
1 paper
NM_025145.7
p.K1274_H1276del0
c.3822_3827del6
1 paper
NM_025145.7
p.K1274_H1276del3
c.3820_3827del9
2 papers
NM_025145.7
p.E1294fs
c.3880_3881fs
1 paper
NM_025145.7
p.E1294G
c.3881A>G
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