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

1–12 of 921 variants

35 papers

NM_006941.4

p.E189*

c.565G>T

23 papers

NM_006941.4

p.S135T

c.404G>C

22 papers

NM_006941.4

p.R43*

c.127C>T

19 papers

NM_006941.4

p.Q377*

c.1129C>T

17 papers

NM_006941.4

p.Y83*

c.249C>G

17 papers

NM_006941.4

p.Y83*

c.249C>A

17 papers

NM_006941.4

p.Y207*

c.621C>G

17 papers

NM_006941.4

p.Y207*

c.621C>A

16 papers

NM_006941.4

p.L145P

c.434T>C

16 papers

NM_006941.4

p.S251*

c.752C>A

15 papers

NM_006941.4

p.A157V

c.470C>T

15 papers

NM_006941.4

p.Q234*

c.700C>T