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.L14L

c.42C>T

Surrounding Variants

1 paper

NM_031439.4

p.E15Q

c.43G>C

1 paper

NM_031439.4

p.E15K

c.43G>A

2 papers

NM_031439.4

p.L14V

c.40C>G

1 paper

NM_031439.4

p.P35A

c.103C>G

2 papers

NM_031439.4

p.P35R

c.104C>G

1 paper

NM_031439.4

p.S41S

c.123C>G

1 paper

NM_031439.4

p.R44C

c.130C>T

1 paper

NM_031439.4

p.K81R

c.242A>G

1 paper

NM_031439.4

p.A85A

c.255G>A

1 paper

NM_031439.4

p.Q90R

c.269A>G

1 paper

NM_031439.4

p.V95M

c.283G>A

1 paper

NM_031439.4

p.E97K

c.289G>A