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

15 papers

NM_006941.4

p.Q234*

c.700C>T

Surrounding Variants

1 paper

NM_006941.4

p.Q234P

c.701A>C

1 paper

NM_006941.4

p.Q234H

c.702G>T

1 paper

NM_006941.4

p.Q234H

c.702G>C

1 paper

NM_006941.4

p.G233D

c.698G>A

8 papers

NM_006941.4

p.G233Splc

c.698-1G>C

1 paper

NM_006941.4

p.G233S

c.697G>A

7 papers

NM_006941.4

p.G233Splc

c.698-2A>T

8 papers

NM_006941.4

p.G233Splc

c.698-2A>C

1 paper

NM_006941.4

p.H236fs

c.706_707fs

1 paper

NM_006941.4

p.H236P

c.707A>C

1 paper

NM_006941.4

p.G237D

c.710G>A

3 papers

NM_006941.4

p.P238L

c.713C>T