Varaico: Literature-Extracted Genetic Variants

Gene:SOX13
Variant:p.R461H

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.R461H
c.1382G>A
Surrounding Variants
1 paper
NM_005686.3
p.A478E
c.1433C>A
1 paper
NM_005686.3
p.S481N
c.1442G>A
1 paper
NM_005686.3
p.R499H
c.1496G>A
1 paper
NM_005686.3
p.R507Q
c.1520G>A
1 paper
NM_005686.3
p.R520P
c.1559G>C
1 paper
NM_005686.3
p.R521H
c.1562G>A
1 paper
NM_005686.3
p.R525H
c.1574G>A
1 paper
NM_005686.3
p.Q444E
c.1330C>G
1 paper
NM_005686.3
p.P532S
c.1594C>T
1 paper
NM_005686.3
p.V537_Q538ins5
c.1609_1613ins15
1 paper
NM_005686.3
p.S566N
c.1697G>A
1 paper
NM_005686.3
p.E610K
c.1828G>A
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