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.P252A

c.754C>G

Surrounding Variants

1 paper

NM_001172509.2

p.R251H

c.752G>A

1 paper

NM_001172509.2

p.Q250Q

c.750G>A

7 papers

NM_001172509.2

p.Q250*

c.748C>T

4 papers

NM_001172509.2

p.H254Y

c.760C>T

1 paper

NM_001172509.2

p.L248R

c.743T>G

2 papers

NM_001172509.2

p.C246*

c.738T>A

1 paper

NM_001172509.2

p.N257S

c.770A>G

1 paper

NM_001172509.2

p.N257K

c.771T>G

1 paper

NM_001172509.2

p.N257K

c.771T>A

1 paper

NM_001172509.2

p.M258fs

c.772_773fs

1 paper

NM_001172509.2

p.M258V

c.772A>G

1 paper

NM_001172509.2

p.N257insFs

c.771dupT