Varaico: Literature-Extracted Genetic Variants

SOX2

696 papers

RefSeq Summary

This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The pr...

Pfam Domains

HMG_boxaa 41–109UCSCHMG (high mobility group) box

SOXpaa 110–200UCSCSOX transcription factor

Gene Aliases

HGNC Name

SRY-box transcription factor 2

HGNC Previous Names

SRY (sex determining region Y)-box 2; SRY-box 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_003106.4

p.G130A

c.389G>C

Surrounding Variants

1 paper

NM_003106.4

p.L131fs

c.391_392fs

1 paper

NM_003106.4

p.G129G

c.387C>G

1 paper

NM_003106.4

p.L131L

c.391C>T

1 paper

NM_003106.4

p.L131fs

c.391_392fs

1 paper

NM_003106.4

p.G129D

c.386G>A

7 papers

NM_003106.4

p.G129delFs

c.387delC

2 papers

NM_003106.4

p.G129fs

c.385_386fs

1 paper

NM_003106.4

p.G129fs

c.385_386fs

1 paper

NM_003106.4

p.L132L

c.394C>T

2 papers

NM_003106.4

p.G129delFs

c.385_386delGG

1 paper

NM_003106.4

p.P128L

c.383C>T

1 paper

NM_003106.4

p.P128A

c.382C>G