Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.F254fs

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
3 papers
NM_014845.6
p.F254fs
c.760_761fs
Surrounding Variants
1 paper
NM_014845.6
p.F254I
c.760T>A
1 paper
NM_014845.6
p.F254L
c.760T>C
8 papers
NM_014845.6
p.F254fs
c.760_761fs
1 paper
NM_014845.6
p.F254L
c.762C>A
1 paper
NM_014845.6
p.F254L
c.762C>G
9 papers
NM_014845.6
p.G253delFs
c.759delG
1 paper
NM_014845.6
p.S258*
c.773C>A
1 paper
NM_014845.6
p.S258*
c.773C>G
1 paper
NM_014845.6
p.L248*
c.743T>A
9 papers
NM_014845.6
p.W246*
c.738G>A
10 papers
NM_014845.6
p.W246*
c.737G>A
4 papers
NM_014845.6
p.W246S
c.737G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."