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.Q55*

c.163C>T

Surrounding Variants

1 paper

NM_018419.3

p.P52S

c.154C>T

1 paper

NM_018419.3

p.P48L

c.143C>T

1 paper

NM_018419.3

p.P62P

c.186C>G

1 paper

NM_018419.3

p.E63K

c.187G>A

1 paper

NM_018419.3

p.G65R

c.193G>A

1 paper

NM_018419.3

p.P39_L42del4

c.115_125del12

1 paper

NM_018419.3

p.P71L

c.212C>T

1 paper

NM_018419.3

p.R74P

c.221G>C

1 paper

NM_018419.3

p.E76D

c.228A>T

1 paper

NM_018419.3

p.A28insFs

c.84dupC

1 paper

NM_018419.3

p.S83L

c.248C>T

1 paper

NM_018419.3

p.P88L

c.263C>T