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.R176ins4

c.526_527ins12

Surrounding Variants

2 papers

NM_006941.4

p.R176T

c.527G>C

2 papers

NM_006941.4

p.R177W

c.529C>T

1 paper

NM_006941.4

p.R177G

c.529C>G

1 paper

NM_006941.4

p.R177ins4

c.529_530ins12

2 papers

NM_006941.4

p.R177ins5

c.529_530ins15

1 paper

NM_006941.4

p.R177ins4

c.529_530ins12

3 papers

NM_006941.4

p.R177Q

c.530G>A

4 papers

NM_006941.4

p.P175L

c.524C>T

3 papers

NM_006941.4

p.P175R

c.524C>G

1 paper

NM_006941.4

p.P175ins4

c.524_525ins12

2 papers

NM_006941.4

p.R178Q

c.533G>A

7 papers

NM_006941.4

p.P175S

c.523C>T