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.Y75*

c.225T>G

Surrounding Variants

1 paper

NM_001172509.2

p.Y75*

c.225T>A

1 paper

NM_001172509.2

p.Y75H

c.223T>C

1 paper

NM_001172509.2

p.L73V

c.217C>G

1 paper

NM_001172509.2

p.E80*

c.238G>T

1 paper

NM_001172509.2

p.G71C

c.211G>T

1 paper

NM_001172509.2

p.G71S

c.211G>A

1 paper

NM_001172509.2

p.A82T

c.244G>A

1 paper

NM_001172509.2

p.A82fs

c.244_245fs

1 paper

NM_001172509.2

p.V85G

c.254T>G

1 paper

NM_001172509.2

p.V85D

c.254T>A

7 papers

NM_001172509.2

p.L86R

c.257T>G

1 paper

NM_001172509.2

p.C64F

c.191G>T