Varaico: Literature-Extracted Genetic Variants

SOX17

257 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 68–136UCSCHMG (high mobility group) box

Sox17_18_midaa 203–253UCSCSox 17/18 central domain

Gene Aliases

HGNC Name

SRY-box transcription factor 17

HGNC Previous Names

SRY (sex determining region Y)-box 17; SRY-box 17

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022454.4

p.S302S

c.906G>T

Surrounding Variants

1 paper

NM_022454.4

p.A299T

c.895G>A

1 paper

NM_022454.4

p.G298fs

c.892_893fs

1 paper

NM_022454.4

p.Y297Y

c.891C>T

1 paper

NM_022454.4

p.G298delFs

c.893delG

1 paper

NM_022454.4

p.R309R

c.927C>A

1 paper

NM_022454.4

p.V295L

c.883G>C

1 paper

NM_022454.4

p.V295L

c.883G>T

1 paper

NM_022454.4

p.F311S

c.932T>C

1 paper

NM_022454.4

p.A292P

c.874G>C

1 paper

NM_022454.4

p.Q314_Q316del3

c.940_947del9

1 paper

NM_022454.4

p.A292delFs

c.874_875delGC

2 papers

NM_022454.4

p.Q314Q

c.942G>A