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.G28D

c.83G>A

Surrounding Variants

1 paper

NM_022454.4

p.P29insFs

c.87dupC

1 paper

NM_022454.4

p.G26W

c.76G>T

1 paper

NM_022454.4

p.P31_W32insFs

c.93_94insT

2 papers

NM_022454.4

p.M24_G26delFs

c.72_76del5

3 papers

NM_022454.4

p.M24fs

c.70_71fs

4 papers

NM_022454.4

p.A33D

c.98C>A

1 paper

NM_022454.4

p.S35insFs

c.105dupG

1 paper

NM_022454.4

p.L36fs

c.106_107fs

1 paper

NM_022454.4

p.L36_K43insFs

c.107_128dup22

1 paper

NM_022454.4

p.P38_I39insFs

c.112_115dup4

1 paper

NM_022454.4

p.I39I

c.117C>T

2 papers

NM_022454.4

p.Q15P

c.44A>C