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

2 papers

NM_022454.4

p.A121T

c.361G>A

Surrounding Variants

1 paper

NM_022454.4

p.E122delFs

c.365_366delAG

1 paper

NM_022454.4

p.E120E

c.360G>A

2 papers

NM_022454.4

p.E122fs

c.364_365fs

2 papers

NM_022454.4

p.E122*

c.364G>T

1 paper

NM_022454.4

p.E122fs

c.364_365fs

1 paper

NM_022454.4

p.E122D

c.366G>C

1 paper

NM_022454.4

p.E122D

c.366G>T

1 paper

NM_022454.4

p.R123W

c.367C>T

1 paper

NM_022454.4

p.R123Q

c.368G>A

1 paper

NM_022454.4

p.V118A

c.353T>C

1 paper

NM_022454.4

p.L124L

c.370C>T

1 paper

NM_022454.4

p.L124fs

c.370_371fs