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

4 papers

NM_031439.4

p.T169S

c.505A>T

Surrounding Variants

4 papers

NM_031439.4

p.T169S

c.506C>G

1 paper

NM_031439.4

p.G163_A170delFs

c.489_510del22

2 papers

NM_031439.4

p.P172R

c.515C>G

1 paper

NM_031439.4

p.E164D

c.492G>C

1 paper

NM_031439.4

p.P167_L174delFs

c.499_520del22

1 paper

NM_031439.4

p.G157V

c.470G>T

1 paper

NM_031439.4

p.G181E

c.542G>A

1 paper

NM_031439.4

p.A155delFs

c.463delC

1 paper

NM_031439.4

p.R153Q

c.458G>A

1 paper

NM_031439.4

p.G186G

c.558C>T

1 paper

NM_031439.4

p.G187S

c.559G>A

1 paper

NM_031439.4

p.N143T

c.428A>C