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.E185*

c.553G>T

Surrounding Variants

1 paper

NM_022454.4

p.E185_G191delFs

c.555_573del19

1 paper

NM_022454.4

p.P184R

c.551C>G

1 paper

NM_022454.4

p.Q186_F188del0

c.557_562del6

1 paper

NM_022454.4

p.G187delFs

c.559delG

1 paper

NM_022454.4

p.G187_P192del0

c.559_576del18

1 paper

NM_022454.4

p.F183L

c.549C>A

1 paper

NM_022454.4

p.F183L

c.549C>G

1 paper

NM_022454.4

p.G187_P189delFs

c.559_565del7

1 paper

NM_022454.4

p.G187S

c.559G>A

1 paper

NM_022454.4

p.F183L

c.547T>C

1 paper

NM_022454.4

p.L181fs

c.541_542fs

1 paper

NM_022454.4

p.G180G

c.540C>T