Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.V654A

FIG4

452 papers

RefSeq Summary

The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been sh...

Pfam Domains

Syja_Naa 93–423UCSCSacI homology domain

Gene Aliases

HGNC Name

FIG4 phosphoinositide 5-phosphatase

HGNC Previous Symbol

KIAA0274

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
19 papers
NM_014845.6
p.V654A
c.1961T>C
Surrounding Variants
1 paper
NM_014845.6
p.K657_K658delFs
c.1970_1973del4
1 paper
NM_014845.6
p.K657fs
c.1969_1970fs
1 paper
NM_014845.6
p.I651T
c.1952T>C
7 papers
NM_014845.6
p.V650Splc
c.1949-10T>G
1 paper
NM_014845.6
p.K662insFs
c.1986dupG
1 paper
NM_014845.6
p.K663fs
c.1987_1988fs
1 paper
NM_014845.6
p.H665Y
c.1993C>T
1 paper
NM_014845.6
p.E669*
c.2005G>T
1 paper
NM_014845.6
p.F677I
c.2029T>A
1 paper
NM_014845.6
p.F677L
c.2029T>C
1 paper
NM_014845.6
p.F677L
c.2031C>A
1 paper
NM_014845.6
p.F677L
c.2031C>G
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