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.R399G

c.1195C>G

Surrounding Variants

2 papers

NM_001172509.2

p.R399fs

c.1195_1196fs

7 papers

NM_001172509.2

p.R399C

c.1195C>T

3 papers

NM_001172509.2

p.R399L

c.1196G>T

3 papers

NM_001172509.2

p.R399P

c.1196G>C

16 papers

NM_001172509.2

p.R399H

c.1196G>A

2 papers

NM_001172509.2

p.R399delFs

c.1196delC

1 paper

NM_001172509.2

p.K400*

c.1198A>T

2 papers

NM_001172509.2

p.K400E

c.1198A>G

1 paper

NM_001172509.2

p.R399insFs

c.1197dupT

1 paper

NM_001172509.2

p.K400R

c.1199A>G

2 papers

NM_001172509.2

p.E401K

c.1201G>A

1 paper

NM_001172509.2

p.E396D

c.1188G>T