Varaico: Literature-Extracted Genetic Variants

SATB2

277 papers

RefSeq Summary

This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this...

Pfam Domains

ULDaa 58–156UCSCUbiquitin-like oligomerisation domain of SATB

CUTLaa 162–233UCSCCUT1-like DNA-binding domain of SATB

CUTaa 355–434UCSCCUT domain

CUTaa 478–557UCSCCUT domain

Homeodomainaa 615–672UCSCHomeodomain

Gene Aliases

HGNC Name

SATB homeobox 2

HGNC Alias Symbols

KIAA1034; FLJ21474

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001172509.2

p.H277Q

c.831C>G

Surrounding Variants

1 paper

NM_001172509.2

p.H277Q

c.831C>A

2 papers

NM_001172509.2

p.H278fs

c.832_833fs

1 paper

NM_001172509.2

p.H278R

c.833A>G

2 papers

NM_001172509.2

p.H278delFs

c.832delG

2 papers

NM_001172509.2

p.Q275*

c.823C>T

1 paper

NM_001172509.2

p.H273_S274delFs

c.819_820delTG

1 paper

NM_001172509.2

p.I282V

c.844A>G

1 paper

NM_001172509.2

p.I282N

c.845T>A

3 papers

NM_001172509.2

p.P272delFs

c.816delA

3 papers

NM_001172509.2

p.H273fs

c.817_818fs

15 papers

NM_001172509.2

p.R283*

c.847C>T

2 papers

NM_001172509.2

p.Q270delFs

c.808_809delTG