Varaico: Literature-Extracted Genetic Variants

Gene:FHAD1
Variant:p.G347Splc

FHAD1

59 papers

Pfam Domains

FHAaa 18–85UCSCFHA domain
Ccdc27aa 269–554UCSCCoiled-coil domain-containing protein 27

Gene Aliases

HGNC Name

forkhead associated phosphopeptide binding domain 1

HGNC Alias Symbol

KIAA1937

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001391957.1
p.G347Splc
c.1039+586C>T
Surrounding Variants
1 paper
NM_001391957.1
p.I356M
c.1068A>G
1 paper
NM_001391957.1
p.L366_V370delFs
c.1098_1110del13
1 paper
NM_001391957.1
p.E401*
c.1201G>T
2 papers
NM_001391957.1
p.T420_Q421Splc
c.1260+1G>A
1 paper
NM_001391957.1
p.I292I
c.876C>T
1 paper
NM_001391957.1
p.T272S
c.815C>G
1 paper
NM_001391957.1
p.T272S
c.814A>T
2 papers
NM_001391957.1
p.V252I
c.754G>A
1 paper
NM_001391957.1
p.L233R
c.698T>G
1 paper
NM_001391957.1
p.K226_D227Splc
c.679-237T>G
1 paper
NM_001391957.1
p.T420_Q421Splc
c.1261-85G>A
1 paper
NM_001391957.1
p.R437K
c.1310G>A
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