Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.E792_N793Splc

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.E792_N793Splc
c.2377-2A>T
Surrounding Variants
1 paper
NM_014845.6
p.E792_N793Splc
c.2377-9A>T
1 paper
NM_014845.6
p.E792_N793Splc
c.2377-10T>A
1 paper
NM_014845.6
p.V795_Q796del1
c.2385_2387delCCA
3 papers
NM_014845.6
p.Q796*
c.2386C>T
1 paper
NM_014845.6
p.E792_N793Splc
c.2377-19T>C
1 paper
NM_014845.6
p.Y802C
c.2405A>G
1 paper
NM_014845.6
p.N805H
c.2413A>C
1 paper
NM_014845.6
p.N805I
c.2414A>T
1 paper
NM_014845.6
p.S811delFs
c.2431_2432delTC
5 papers
NM_014845.6
p.E813_D814del1
c.2439_2441delAGA
3 papers
NM_014845.6
p.F815S
c.2444T>C
1 paper
NM_014845.6
p.I817F
c.2449A>T
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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."