Varaico: Literature-Extracted Genetic Variants

Gene:FAM43A
Variant:p.K249N

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
Selected Variant
1 paper
NM_153690.5
p.K249N
c.747G>T
Surrounding Variants
1 paper
NM_153690.5
p.K249N
c.747G>C
1 paper
NM_153690.5
p.R243S
c.727C>A
1 paper
NM_153690.5
p.E265Q
c.793G>C
1 paper
NM_153690.5
p.H232Y
c.694C>T
1 paper
NM_153690.5
p.E268Q
c.802G>C
1 paper
NM_153690.5
p.Q274R
c.821A>G
1 paper
NM_153690.5
p.E282Q
c.844G>C
1 paper
NM_153690.5
p.R209_H210insGA
c.625_629ins6
1 paper
NM_153690.5
p.V173M
c.517G>A
1 paper
NM_153690.5
p.G327R
c.979G>C
1 paper
NM_153690.5
p.G328S
c.982G>A
2 papers
NM_153690.5
p.G328D
c.983G>A
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