Varaico: Literature-Extracted Genetic Variants

SOX7

62 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

HMG_boxaa 45–113UCSCHMG (high mobility group) box

Sox17_18_midaa 186–236UCSCSox 17/18 central domain

Gene Aliases

HGNC Name

SRY-box transcription factor 7

HGNC Previous Names

SRY (sex determining region Y)-box 7; SRY-box 7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031439.4

p.A98G

c.293C>G

Surrounding Variants

1 paper

NM_031439.4

p.E97K

c.289G>A

1 paper

NM_031439.4

p.V95M

c.283G>A

2 papers

NM_031439.4

p.R102C

c.304C>T

2 papers

NM_031439.4

p.Q104*

c.310C>T

1 paper

NM_031439.4

p.H105L

c.314A>T

1 paper

NM_031439.4

p.M106V

c.316A>G

1 paper

NM_031439.4

p.Q90R

c.269A>G

1 paper

NM_031439.4

p.D108N

c.322G>A

1 paper

NM_031439.4

p.A85A

c.255G>A

1 paper

NM_031439.4

p.R115W

c.343C>T

1 paper

NM_031439.4

p.K81R

c.242A>G

1 paper

NM_031439.4

p.P116P

c.348G>A