Varaico: Literature-Extracted Genetic Variants

Gene:FHIP2A
Variant:p.L83P

FHIP2A

43 papers

Pfam Domains

RAI16-likeaa 78–495UCSCRetinoic acid induced 16-like protein
DUF5917aa 632–725UCSCFamily of unknown function (DUF5917)
KELAAaa 732–763UCSCKELAA motif

Gene Aliases

HGNC Name

FHF complex subunit HOOK interacting protein 2A

HGNC Previous Symbols

KIAA1600; FAM160B1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_020940.4
p.L83P
c.248T>C
Surrounding Variants
1 paper
NM_020940.4
p.V47L
c.139G>C
2 papers
NM_020940.4
p.V128M
c.382G>A
1 paper
NM_020940.4
p.E39*
c.115G>T
1 paper
NM_020940.4
p.Y36*
c.108C>A
1 paper
NM_020940.4
p.Y36*
c.108C>G
1 paper
NM_020940.4
p.I33S
c.98T>G
1 paper
NM_020940.4
p.D25V
c.74A>T
1 paper
NM_020940.4
p.P186L
c.557C>T
1 paper
NM_020940.4
p.E191V
c.572A>T
1 paper
NM_020940.4
p.Q197*
c.589C>T
1 paper
NM_020940.4
p.R208C
c.622C>T
1 paper
NM_020940.4
p.S251L
c.752C>T
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