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.A183A

c.549C>T

Surrounding Variants

4 papers

NM_006941.4

p.A184T

c.550G>A

2 papers

NM_006941.4

p.A183G

c.548C>G

1 paper

NM_006941.4

p.A183P

c.547G>C

1 paper

NM_006941.4

p.A183T

c.547G>A

1 paper

NM_006941.4

p.Q185*

c.553C>T

1 paper

NM_006941.4

p.K182fs

c.544_545fs

1 paper

NM_006941.4

p.A184_Q185delins

c.550_553delinsG

1 paper

NM_006941.4

p.N180_G181insFs

c.538_541dup4

1 paper

NM_006941.4

p.G186R

c.556G>C

1 paper

NM_006941.4

p.G186S

c.556G>A

2 papers

NM_006941.4

p.G181R

c.541G>C

2 papers

NM_006941.4

p.G181R

c.541G>A