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.Q270fs

c.808_809fs

Surrounding Variants

2 papers

NM_001172509.2

p.Q270delFs

c.808_809delTG

1 paper

NM_001172509.2

p.N268K

c.804C>A

1 paper

NM_001172509.2

p.N268S

c.803A>G

3 papers

NM_001172509.2

p.P272delFs

c.816delA

3 papers

NM_001172509.2

p.H273fs

c.817_818fs

1 paper

NM_001172509.2

p.T267A

c.799A>G

1 paper

NM_001172509.2

p.K266R

c.797A>G

1 paper

NM_001172509.2

p.H273_S274delFs

c.819_820delTG

2 papers

NM_001172509.2

p.Q275*

c.823C>T

1 paper

NM_001172509.2

p.L264L

c.790C>T

1 paper

NM_001172509.2

p.S263P

c.787T>C

1 paper

NM_001172509.2

p.H277Q

c.831C>G