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.F292L

c.876T>G

Surrounding Variants

1 paper

NM_006941.4

p.F292L

c.876T>A

1 paper

NM_006941.4

p.D293fs

c.877_878fs

3 papers

NM_006941.4

p.D293N

c.877G>A

1 paper

NM_006941.4

p.F292delFs

c.876delA

1 paper

NM_006941.4

p.F292L

c.874T>C

1 paper

NM_006941.4

p.F292fs

c.874_875fs

1 paper

NM_006941.4

p.T291T

c.873C>A

1 paper

NM_006941.4

p.V294L

c.880G>C

1 paper

NM_006941.4

p.T291I

c.872C>T

1 paper

NM_006941.4

p.M289fs

c.865_866fs

1 paper

NM_006941.4

p.L297S

c.890T>C

1 paper

NM_006941.4

p.S287fs

c.859_860fs