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.K246_T247delFs

c.737_740del4

Surrounding Variants

5 papers

NM_006941.4

p.E248fs

c.742_743fs

1 paper

NM_006941.4

p.E248insFs

c.743_744ins7

4 papers

NM_006941.4

p.E248delFs

c.743_744delCT

2 papers

NM_006941.4

p.E248del1

c.742_743delCTC

2 papers

NM_006941.4

p.E248fs

c.742_743fs

14 papers

NM_006941.4

p.Q250*

c.748C>T

1 paper

NM_006941.4

p.T247fs

c.739_740fs

1 paper

NM_006941.4

p.K246R

c.737A>G

1 paper

NM_006941.4

p.K246T

c.737A>C

1 paper

NM_006941.4

p.S251L

c.752C>T

1 paper

NM_006941.4

p.S251insFs

c.752_753ins7

3 papers

NM_006941.4

p.S251insFs

c.752_753ins7