Varaico: Literature-Extracted Genetic Variants

SOX10

603 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 the cell fate. The encoded p...

Pfam Domains

Sox_Naa 12–93UCSCSox developmental protein N terminal

HMG_boxaa 104–172UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 10

HGNC Alias Symbols

DOM; WS4; WS2E; SOX-10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006941.4

p.E156K

c.466G>A

Surrounding Variants

1 paper

NM_006941.4

p.E156delFs

c.467delT

1 paper

NM_006941.4

p.E155G

c.464A>G

5 papers

NM_006941.4

p.E155*

c.463G>T

2 papers

NM_006941.4

p.A157T

c.469G>A

2 papers

NM_006941.4

p.E155K

c.463G>A

15 papers

NM_006941.4

p.A157V

c.470C>T

1 paper

NM_006941.4

p.I154M

c.462C>G

1 paper

NM_006941.4

p.E158*

c.472G>T

1 paper

NM_006941.4

p.F153F

c.459C>T

1 paper

NM_006941.4

p.F153fs

c.457_458fs

2 papers

NM_006941.4

p.P152insFs

c.456dupC

1 paper

NM_006941.4

p.F153insFs

c.457_458ins5