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.Y366H

c.1096T>C

Surrounding Variants

1 paper

NM_022454.4

p.Y366C

c.1097A>G

1 paper

NM_022454.4

p.L367V

c.1099C>G

1 paper

NM_022454.4

p.Q365_Y366del2

c.1093_1097del6

1 paper

NM_022454.4

p.E364K

c.1090G>A

2 papers

NM_022454.4

p.F369L

c.1105T>C

2 papers

NM_022454.4

p.F369L

c.1107C>A

2 papers

NM_022454.4

p.F369L

c.1107C>G

1 paper

NM_022454.4

p.V370M

c.1108G>A

6 papers

NM_022454.4

p.T361K

c.1082C>A

1 paper

NM_022454.4

p.C371R

c.1111T>C

1 paper

NM_022454.4

p.D359E

c.1077C>A

1 paper

NM_022454.4

p.D359E

c.1077C>G