Varaico: Literature-Extracted Genetic Variants

Gene:FIG4

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
1–12 of 476 variants
121 papers
NM_014845.6
p.I41T
c.122T>C
30 papers
NM_014845.6
p.R183*
c.547C>T
19 papers
NM_014845.6
p.V654A
c.1961T>C
14 papers
NM_014845.6
p.M364L
c.1090A>T
13 papers
NM_014845.6
p.M364L
c.1090A>C
12 papers
NM_014845.6
p.D53Y
c.157G>T
11 papers
NM_014845.6
p.R820Splc
c.2459+1G>A
10 papers
NM_014845.6
p.W246*
c.737G>A
10 papers
NM_014845.6
p.R381*
c.1141C>T
10 papers
NM_014845.6
p.Y647C
c.1940A>G
9 papers
NM_014845.6
p.L17P
c.50T>C
9 papers
NM_014845.6
p.L175P
c.524T>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."