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.Y369ins2

c.1106_1107ins6

Surrounding Variants

3 papers

NM_006941.4

p.Y369insFs

c.1106_1107ins17

1 paper

NM_006941.4

p.Y369N

c.1105T>A

2 papers

NM_006941.4

p.Y369*

c.1107C>G

2 papers

NM_006941.4

p.Y369_T370insFs

c.1107_1108ins19

2 papers

NM_006941.4

p.Y369fs

c.1105_1106fs

2 papers

NM_006941.4

p.Y369*

c.1107C>A

1 paper

NM_006941.4

p.H368Q

c.1104C>G

1 paper

NM_006941.4

p.H368Q

c.1104C>A

6 papers

NM_006941.4

p.T370fs

c.1108_1109fs

1 paper

NM_006941.4

p.T370A

c.1108A>G

3 papers

NM_006941.4

p.Y369delFs

c.1107delG

1 paper

NM_006941.4

p.H368D

c.1102C>G