Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.V395delFs

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
2 papers
NM_014845.6
p.V395delFs
c.1185delT
Surrounding Variants
1 paper
NM_014845.6
p.V395_A396del1
c.1184_1186delTTG
2 papers
NM_014845.6
p.A396fs
c.1186_1187fs
1 paper
NM_014845.6
p.A397P
c.1189G>C
1 paper
NM_014845.6
p.A397V
c.1190C>T
1 paper
NM_014845.6
p.I389V
c.1165A>G
8 papers
NM_014845.6
p.R388G
c.1162A>G
1 paper
NM_014845.6
p.Q403_F404insT
c.1207_1211ins3
8 papers
NM_014845.6
p.Q403*
c.1207C>T
1 paper
NM_014845.6
p.L405fs
c.1213_1214fs
1 paper
NM_014845.6
p.L405_E408delFs
c.1215_1224del10
1 paper
NM_014845.6
p.R384fs
c.1150_1151fs
1 paper
NM_014845.6
p.K383_R384Fs
c.1149_1150delinsTFs
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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."