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.D66N

c.196G>A

Surrounding Variants

1 paper

NM_006941.4

p.A63_D64del0

c.187_192del6

1 paper

NM_006941.4

p.D65N

c.193G>A

1 paper

NM_006941.4

p.D64E

c.192C>G

1 paper

NM_006941.4

p.D64E

c.192C>A

1 paper

NM_006941.4

p.Q59_D64delFs

c.176_191del16

1 paper

NM_006941.4

p.Q59_K67delFs

c.177_199del23

2 papers

NM_006941.4

p.D64V

c.191A>T

1 paper

NM_006941.4

p.D64G

c.191A>G

1 paper

NM_006941.4

p.D64A

c.191A>C

1 paper

NM_006941.4

p.D64insFs

c.190dupG

2 papers

NM_006941.4

p.F68L

c.202T>C

1 paper

NM_006941.4

p.D64N

c.190G>A