Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.K379_E380Splc

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
1 paper
NM_014845.6
p.K379_E380Splc
c.1138-1G>A
Surrounding Variants
10 papers
NM_014845.6
p.R381*
c.1141C>T
1 paper
NM_014845.6
p.E382K
c.1144G>A
1 paper
NM_014845.6
p.R384delFs
c.1150delA
3 papers
NM_014845.6
p.K383Q
c.1147A>C
1 paper
NM_014845.6
p.K383*
c.1147A>T
1 paper
NM_014845.6
p.K383Fs
c.1147_1148delinsTFs
1 paper
NM_014845.6
p.K383_R384Fs
c.1149_1150delinsTFs
1 paper
NM_014845.6
p.R384fs
c.1150_1151fs
1 paper
NM_014845.6
p.K379_E380Splc
c.1138-22A>G
8 papers
NM_014845.6
p.R388G
c.1162A>G
1 paper
NM_014845.6
p.I389V
c.1165A>G
1 paper
NM_014845.6
p.V395_A396del1
c.1184_1186delTTG
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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."