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.E359D

c.1077G>T

Surrounding Variants

1 paper

NM_006941.4

p.E359_T360insFs

c.1077_1078insT

3 papers

NM_006941.4

p.E359fs

c.1075_1076fs

1 paper

NM_006941.4

p.E359D

c.1077G>C

3 papers

NM_006941.4

p.T358delFs

c.1074delT

6 papers

NM_006941.4

p.E359fs

c.1075_1076fs

1 paper

NM_006941.4

p.T360I

c.1079C>T

4 papers

NM_006941.4

p.E359_T360delFs

c.1077_1078delTC

1 paper

NM_006941.4

p.T360fs

c.1078_1079fs

1 paper

NM_006941.4

p.A361T

c.1081G>A

1 paper

NM_006941.4

p.T360delFs

c.1080delG

2 papers

NM_006941.4

p.A361V

c.1082C>T

1 paper

NM_006941.4

p.A361G

c.1082C>G