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

4 papers

NM_022454.4

p.M76V

c.226A>G

Surrounding Variants

1 paper

NM_022454.4

p.F75L

c.225C>A

1 paper

NM_022454.4

p.F75L

c.225C>G

1 paper

NM_022454.4

p.F75L

c.223T>C

2 papers

NM_022454.4

p.N73T

c.218A>C

1 paper

NM_022454.4

p.M72L

c.214A>C

1 paper

NM_022454.4

p.M72L

c.214A>T

2 papers

NM_022454.4

p.P71L

c.212C>T

2 papers

NM_022454.4

p.M72_M76del5

c.214_227del15

1 paper

NM_022454.4

p.D81E

c.243C>A

1 paper

NM_022454.4

p.D81E

c.243C>G

4 papers

NM_022454.4

p.R70Q

c.209G>A

1 paper

NM_022454.4

p.R70L

c.209G>T