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.H206N

c.616C>A

Surrounding Variants

1 paper

NM_006941.4

p.I203_H206delFs

c.609_616del8

1 paper

NM_006941.4

p.H206H

c.618C>T

1 paper

NM_006941.4

p.A205V

c.614C>T

1 paper

NM_006941.4

p.A205T

c.613G>A

17 papers

NM_006941.4

p.Y207*

c.621C>G

17 papers

NM_006941.4

p.Y207*

c.621C>A

1 paper

NM_006941.4

p.Q204*

c.610C>T

1 paper

NM_006941.4

p.K208T

c.623A>C

1 paper

NM_006941.4

p.K208delFs

c.623delT

1 paper

NM_006941.4

p.I203V

c.607A>G

1 paper

NM_006941.4

p.S209R

c.625A>C

1 paper

NM_006941.4

p.A202fs

c.604_605fs