Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.Y647C

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
10 papers
NM_014845.6
p.Y647C
c.1940A>G
Surrounding Variants
4 papers
NM_014845.6
p.V650Splc
c.1948+3A>G
1 paper
NM_014845.6
p.L643*
c.1928T>A
1 paper
NM_014845.6
p.V639L
c.1915G>C
2 papers
NM_014845.6
p.P637Q
c.1910C>A
1 paper
NM_014845.6
p.S630Splc
c.1890-2A>G
1 paper
NM_014845.6
p.V650Splc
c.1948+46C>A
1 paper
NM_014845.6
p.V650Splc
c.1949-308G>A
7 papers
NM_014845.6
p.V650Splc
c.1949-10T>G
1 paper
NM_014845.6
p.I651T
c.1952T>C
19 papers
NM_014845.6
p.V654A
c.1961T>C
1 paper
NM_014845.6
p.K657_K658delFs
c.1970_1973del4
1 paper
NM_014845.6
p.K657fs
c.1969_1970fs
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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."