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

2 papers

NM_001172509.2

p.A112fs

c.334_335fs

Surrounding Variants

1 paper

NM_001172509.2

p.A112T

c.334G>A

1 paper

NM_001172509.2

p.A111A

c.333G>C

2 papers

NM_001172509.2

p.A112delFs

c.334delC

3 papers

NM_001172509.2

p.Q113*

c.337C>T

1 paper

NM_001172509.2

p.Q115E

c.343C>G

3 papers

NM_001172509.2

p.G116*

c.346G>T

5 papers

NM_001172509.2

p.G116R

c.346G>C

6 papers

NM_001172509.2

p.G116Splc

c.346+2T>G

1 paper

NM_001172509.2

p.G105A

c.314G>C

1 paper

NM_001172509.2

p.T99I

c.296C>T

4 papers

NM_001172509.2

p.L96R

c.287T>G

1 paper

NM_001172509.2

p.L96Q

c.287T>A