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.F153insFs

c.457_458ins5

Surrounding Variants

2 papers

NM_006941.4

p.P152insFs

c.456dupC

1 paper

NM_006941.4

p.R151_P152insFs

c.452_456dup5

1 paper

NM_006941.4

p.F153I

c.457T>A

1 paper

NM_006941.4

p.P152delFs

c.455_456delGG

1 paper

NM_006941.4

p.F153fs

c.457_458fs

1 paper

NM_006941.4

p.F153F

c.459C>T

1 paper

NM_006941.4

p.F153fs

c.457_458fs

1 paper

NM_006941.4

p.P152S

c.454C>T

1 paper

NM_006941.4

p.R151P

c.452G>C

1 paper

NM_006941.4

p.R151H

c.452G>A

1 paper

NM_006941.4

p.I154M

c.462C>G

5 papers

NM_006941.4

p.E155*

c.463G>T