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.S13delFs

c.38delC

Surrounding Variants

1 paper

NM_006941.4

p.S13R

c.39C>G

1 paper

NM_006941.4

p.S13R

c.39C>A

1 paper

NM_006941.4

p.S13N

c.38G>A

1 paper

NM_006941.4

p.P14T

c.40C>A

1 paper

NM_006941.4

p.S13R

c.37A>C

1 paper

NM_006941.4

p.P14_V15insFs

c.42_43insG

4 papers

NM_006941.4

p.V15fs

c.43_44fs

1 paper

NM_006941.4

p.P14delFs

c.42delG

2 papers

NM_006941.4

p.V15fs

c.43_44fs

1 paper

NM_006941.4

p.V10insFs

c.29dupT

3 papers

NM_006941.4

p.S17fs

c.49_50fs

1 paper

NM_006941.4

p.S17L

c.50C>T