Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.E1082delFs

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.E1082delFs
c.3245_3246delCT
Surrounding Variants
2 papers
NM_025145.7
p.D1080delFs
c.3240delA
1 paper
NM_025145.7
p.L1076R
c.3227T>G
1 paper
NM_025145.7
p.C1069_E1070insAC
c.3205_3209ins6
1 paper
NM_025145.7
p.D1054N
c.3160G>A
1 paper
NM_025145.7
p.E1050*
c.3148G>T
1 paper
NM_025145.7
p.R1040H
c.3119G>A
1 paper
NM_025145.7
p.N1024S
c.3071A>G
1 paper
NM_025145.7
p.H1106delFs
c.3317delT
1 paper
NM_025145.7
p.T1115I
c.3344C>T
5 papers
NM_025145.7
p.R1118*
c.3352C>T
1 paper
NM_025145.7
p.G1125fs
c.3373_3374fs
1 paper
NM_025145.7
p.L997L
c.2991G>A
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