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.M1insFs

c.1_2insA

Surrounding Variants

1 paper

NM_022454.4

p.M1insFs

c.2dupT

1 paper

NM_022454.4

p.M1V

c.1A>G

1 paper

NM_022454.4

p.S2delFs

c.4delA

1 paper

NM_022454.4

p.P4delins

c.11delinsA

1 paper

NM_022454.4

p.P4P

c.12G>A

1 paper

NM_022454.4

p.A9T

c.25G>A

1 paper

NM_022454.4

p.D12N

c.34G>A

1 paper

NM_022454.4

p.D12Y

c.34G>T

1 paper

NM_022454.4

p.D12D

c.36C>T

1 paper

NM_022454.4

p.Q13H

c.39G>C

1 paper

NM_022454.4

p.Q13H

c.39G>T

1 paper

NM_022454.4

p.S14S

c.42C>T