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

2 papers

NM_006941.4

p.Y313_A316delFs

c.937_947del11

Surrounding Variants

1 paper

NM_006941.4

p.A315_A316del1

c.944_946delCTG

1 paper

NM_006941.4

p.G317S

c.949G>A

2 papers

NM_006941.4

p.A316S

c.946G>T

1 paper

NM_006941.4

p.S314_A315del2

c.940_944del6

1 paper

NM_006941.4

p.Y318C

c.953A>G

1 paper

NM_006941.4

p.G319E

c.956G>A

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

1 paper

NM_006941.4

p.Y313C

c.938A>G

2 papers

NM_006941.4

p.Y313fs

c.937_938fs

2 papers

NM_006941.4

p.G321R

c.961G>C