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

3 papers

NM_006941.4

p.P307delFs

c.921delT

Surrounding Variants

1 paper

NM_006941.4

p.G308fs

c.922_923fs

1 paper

NM_006941.4

p.G308V

c.923G>T

1 paper

NM_006941.4

p.P307L

c.920C>T

11 papers

NM_006941.4

p.H309H

c.927T>C

2 papers

NM_006941.4

p.V310M

c.928G>A

1 paper

NM_006941.4

p.H309_V310delins

c.927_928delinsCA

1 paper

NM_006941.4

p.H306Y

c.916C>T

5 papers

NM_006941.4

p.G305delFs

c.915delC

3 papers

NM_006941.4

p.H306fs

c.916_917fs

3 papers

NM_006941.4

p.V310insFs

c.929_930insG

1 paper

NM_006941.4

p.S311insFs

c.931_932ins4

1 paper

NM_006941.4

p.S311T

c.932G>C