Varaico: Literature-Extracted Genetic Variants

Gene:FAM43A

FAM43A

29 papers

Pfam Domains

PID_2aa 69–256UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

family with sequence similarity 43 member A

HGNC Alias Symbol

FLJ90022

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
2 papers
NM_153690.5
p.G328D
c.983G>A
1 paper
NM_153690.5
p.P17P
c.51G>A
1 paper
NM_153690.5
p.A20V
c.59C>T
1 paper
NM_153690.5
p.G51A
c.152G>C
1 paper
NM_153690.5
p.E66K
c.196G>A
1 paper
NM_153690.5
p.Y70insFs
c.209_210insGA
1 paper
NM_153690.5
p.Y70*
c.210C>A
1 paper
NM_153690.5
p.Y70*
c.210C>G
1 paper
NM_153690.5
p.A102S
c.304G>T
1 paper
NM_153690.5
p.I118V
c.352A>G
1 paper
NM_153690.5
p.P131S
c.391C>T
1 paper
NM_153690.5
p.L137V
c.409C>G
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