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.E147K

c.439G>A

Surrounding Variants

1 paper

NM_006941.4

p.E147*

c.439G>T

1 paper

NM_006941.4

p.E147G

c.440A>G

1 paper

NM_006941.4

p.S148N

c.443G>A

1 paper

NM_006941.4

p.L145delFs

c.434delA

16 papers

NM_006941.4

p.L145P

c.434T>C

1 paper

NM_006941.4

p.L145L

c.433C>T

2 papers

NM_006941.4

p.L144delFs

c.430delG

2 papers

NM_006941.4

p.L144fs

c.430_431fs

5 papers

NM_006941.4

p.K150*

c.448A>T

4 papers

NM_006941.4

p.K150E

c.448A>G

4 papers

NM_006941.4

p.K150N

c.450G>T

4 papers

NM_006941.4

p.K150N

c.450G>C