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.S311T

c.932G>C

Surrounding Variants

1 paper

NM_006941.4

p.S311insFs

c.931_932ins4

1 paper

NM_006941.4

p.S311N

c.932G>A

3 papers

NM_006941.4

p.V310insFs

c.929_930insG

1 paper

NM_006941.4

p.S312N

c.935G>A

2 papers

NM_006941.4

p.V310M

c.928G>A

1 paper

NM_006941.4

p.H309_V310delins

c.927_928delinsCA

11 papers

NM_006941.4

p.H309H

c.927T>C

2 papers

NM_006941.4

p.Y313fs

c.937_938fs

1 paper

NM_006941.4

p.Y313C

c.938A>G

11 papers

NM_006941.4

p.Y313*

c.939C>G

3 papers

NM_006941.4

p.Y313insFs

c.938dupA

11 papers

NM_006941.4

p.Y313*

c.939C>A