Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.R183Q

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.R183Q
c.548G>A
Surrounding Variants
30 papers
NM_014845.6
p.R183*
c.547C>T
1 paper
NM_014845.6
p.P185S
c.553C>T
1 paper
NM_014845.6
p.T180P
c.538A>C
1 paper
NM_014845.6
p.L179P
c.536T>C
2 papers
NM_014845.6
p.L179F
c.535C>T
3 papers
NM_014845.6
p.S191delFs
c.573delA
9 papers
NM_014845.6
p.L175P
c.524T>C
1 paper
NM_014845.6
p.S174L
c.521C>T
1 paper
NM_014845.6
p.E192D
c.576A>T
1 paper
NM_014845.6
p.D170E
c.510T>A
1 paper
NM_014845.6
p.D170E
c.510T>G
2 papers
NM_014845.6
p.R197C
c.589C>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."