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.V406I

c.1216G>A

Surrounding Variants

1 paper

NM_022454.4

p.V406G

c.1217T>G

1 paper

NM_022454.4

p.V406insFs

c.1218dupA

1 paper

NM_022454.4

p.A405T

c.1213G>A

1 paper

NM_022454.4

p.Y407fs

c.1219_1220fs

1 paper

NM_022454.4

p.Y407*

c.1221T>A

1 paper

NM_022454.4

p.Y407*

c.1221T>G

1 paper

NM_022454.4

p.Y408delFs

c.1224delC

1 paper

NM_022454.4

p.S403S

c.1209C>T

14 papers

NM_022454.4

p.S403I

c.1208G>T

1 paper

NM_022454.4

p.S403C

c.1207A>T

2 papers

NM_022454.4

p.C409fs

c.1225_1226fs

2 papers

NM_022454.4

p.C409fs

c.1225_1226fs