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.F111fs

c.331_332fs

Surrounding Variants

7 papers

NM_006941.4

p.F111V

c.331T>G

2 papers

NM_006941.4

p.F111L

c.331T>C

1 paper

NM_006941.4

p.A110A

c.330C>T

3 papers

NM_006941.4

p.A110delFs

c.328_329delGC

1 paper

NM_006941.4

p.A110V

c.329C>T

2 papers

NM_006941.4

p.F111L

c.333C>G

2 papers

NM_006941.4

p.F111L

c.333C>A

3 papers

NM_006941.4

p.A110fs

c.328_329fs

1 paper

NM_006941.4

p.M112V

c.334A>G

4 papers

NM_006941.4

p.M112R

c.335T>G

4 papers

NM_006941.4

p.M112T

c.335T>C

1 paper

NM_006941.4

p.N109K

c.327C>A