Varaico: Literature-Extracted Genetic Variants

SOX18

83 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 85–153UCSCHMG (high mobility group) box

Sox17_18_midaa 197–249UCSCSox 17/18 central domain

Gene Aliases

HGNC Name

SRY-box transcription factor 18

HGNC Previous Names

SRY (sex determining region Y)-box 18; SRY-box 18

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018419.3

p.E227G

c.680A>G

Surrounding Variants

1 paper

NM_018419.3

p.A228T

c.682G>A

1 paper

NM_018419.3

p.G226G

c.678C>T

2 papers

NM_018419.3

p.E238*

c.712G>T

1 paper

NM_018419.3

p.P215L

c.644C>T

10 papers

NM_018419.3

p.C240*

c.720C>A

1 paper

NM_018419.3

p.R246H

c.737G>A

1 paper

NM_018419.3

p.P244_P251del0

c.730_753del24

1 paper

NM_018419.3

p.L254L

c.760T>C

1 paper

NM_018419.3

p.R256W

c.766C>T

1 paper

NM_018419.3

p.G263insFs

c.788dupG

1 paper

NM_018419.3

p.A267T

c.799G>A

1 paper

NM_018419.3

p.A267A

c.801G>A