Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.R21K

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.R21K
c.62G>A
Surrounding Variants
1 paper
NM_014845.6
p.Y18C
c.53A>G
1 paper
NM_014845.6
p.Y18N
c.52T>A
9 papers
NM_014845.6
p.L17P
c.50T>C
1 paper
NM_014845.6
p.V16I
c.46G>A
1 paper
NM_014845.6
p.S11L
c.32C>T
1 paper
NM_014845.6
p.S11insFs
c.32dupC
2 papers
NM_014845.6
p.S10N
c.29G>A
3 papers
NM_014845.6
p.I9I
c.27C>T
2 papers
NM_014845.6
p.I8L
c.22A>C
1 paper
NM_014845.6
p.A6S
c.16G>T
2 papers
NM_014845.6
p.A5V
c.14C>T
8 papers
NM_014845.6
p.A4V
c.11C>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."