Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.K1159K

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.K1159K
c.3477A>G
Surrounding Variants
1 paper
NM_025145.7
p.D1163H
c.3487G>C
1 paper
NM_025145.7
p.K1166T
c.3497A>C
1 paper
NM_025145.7
p.D1150H
c.3448G>C
4 papers
NM_025145.7
p.I1140_P1143del4
c.3418_3428del12
1 paper
NM_025145.7
p.K1180_S1181Splc
c.3540+1G>A
1 paper
NM_025145.7
p.G1125fs
c.3373_3374fs
5 papers
NM_025145.7
p.R1118*
c.3352C>T
1 paper
NM_025145.7
p.T1115I
c.3344C>T
1 paper
NM_025145.7
p.H1106delFs
c.3317delT
1 paper
NM_025145.7
p.E1082delFs
c.3245_3246delCT
2 papers
NM_025145.7
p.D1080delFs
c.3240delA
1 paper
NM_025145.7
p.L1076R
c.3227T>G
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