Varaico: Literature-Extracted Genetic Variants

Gene:SOX13
Variant:p.G342Splc

SOX13

67 papers

RefSeq Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded prote...

Pfam Domains

HMG_boxaa 424–492UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 13

HGNC Alias Symbols

Sox-13; ICA12; MGC117216

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005686.3
p.G342Splc
c.1025-14G>T
Surrounding Variants
1 paper
NM_005686.3
p.G342Splc
c.1025-1G>T
1 paper
NM_005686.3
p.G347V
c.1040G>T
1 paper
NM_005686.3
p.R358Q
c.1073G>A
1 paper
NM_005686.3
p.S365I
c.1094G>T
1 paper
NM_005686.3
p.P375H
c.1124C>A
3 papers
NM_005686.3
p.R377H
c.1130G>A
2 papers
NM_005686.3
p.S385*
c.1154C>A
2 papers
NM_005686.3
p.S385*
c.1154C>G
1 paper
NM_005686.3
p.P387S
c.1159C>T
1 paper
NM_005686.3
p.G395S
c.1183G>A
1 paper
NM_005686.3
p.P337insFs
c.1009_1010insG
1 paper
NM_005686.3
p.P337fs
c.1009_1010fs
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