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.H299R

c.896A>G

Surrounding Variants

1 paper

NM_031439.4

p.L303L

c.909T>C

1 paper

NM_031439.4

p.Y289*

c.867C>G

1 paper

NM_031439.4

p.Y289*

c.867C>A

1 paper

NM_031439.4

p.T288S

c.863C>G

1 paper

NM_031439.4

p.T288S

c.862A>T

1 paper

NM_031439.4

p.D313E

c.939C>A

1 paper

NM_031439.4

p.A314T

c.940G>A

1 paper

NM_031439.4

p.D316N

c.946G>A

1 paper

NM_031439.4

p.R329H

c.986G>A

1 paper

NM_031439.4

p.V268I

c.802G>A

1 paper

NM_031439.4

p.G267S

c.799G>A

1 paper

NM_031439.4

p.G263insFs

c.788dupG