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.P226delFs

c.676_677delCC

Surrounding Variants

1 paper

NM_022454.4

p.P226fs

c.676_677fs

1 paper

NM_022454.4

p.D223_T224del1

c.669_671delCAC

1 paper

NM_022454.4

p.D223N

c.667G>A

1 paper

NM_022454.4

p.P222T

c.664C>A

4 papers

NM_022454.4

p.P222A

c.664C>G

1 paper

NM_022454.4

p.G229V

c.686G>T

1 paper

NM_022454.4

p.P220S

c.658C>T

1 paper

NM_022454.4

p.P220insFs

c.659dupC

1 paper

NM_022454.4

p.D231delFs

c.691delG

1 paper

NM_022454.4

p.D231N

c.691G>A

1 paper

NM_022454.4

p.D231delFs

c.693delC

1 paper

NM_022454.4

p.P218P

c.654G>A