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.K172_Y173ins0

c.514_519dup6

Surrounding Variants

5 papers

NM_006941.4

p.Y173*

c.519C>G

2 papers

NM_006941.4

p.Y173_Q174ins2

c.519_520ins6

5 papers

NM_006941.4

p.Y173*

c.519C>A

1 paper

NM_006941.4

p.Q174R

c.521A>G

11 papers

NM_006941.4

p.Q174P

c.521A>C

1 paper

NM_006941.4

p.Q174ins1

c.521_522insCCA

1 paper

NM_006941.4

p.Q174ins2

c.521_522ins6

1 paper

NM_006941.4

p.Q174ins2

c.521_522ins6

7 papers

NM_006941.4

p.P175S

c.523C>T

6 papers

NM_006941.4

p.P175A

c.523C>G

1 paper

NM_006941.4

p.K172N

c.516G>C

4 papers

NM_006941.4

p.P175L

c.524C>T