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.V126A

c.377T>C

Surrounding Variants

3 papers

NM_022454.4

p.Q127*

c.379C>T

3 papers

NM_022454.4

p.R125H

c.374G>A

1 paper

NM_022454.4

p.R125S

c.373C>A

1 paper

NM_022454.4

p.R125C

c.373C>T

1 paper

NM_022454.4

p.L124L

c.370C>T

1 paper

NM_022454.4

p.L124fs

c.370_371fs

1 paper

NM_022454.4

p.R123Q

c.368G>A

1 paper

NM_022454.4

p.R123W

c.367C>T

1 paper

NM_022454.4

p.Q130E

c.388C>G

4 papers

NM_022454.4

p.Q130*

c.388C>T

1 paper

NM_022454.4

p.E122D

c.366G>C

1 paper

NM_022454.4

p.E122D

c.366G>T