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.N241delFs

c.721_722delTT

Surrounding Variants

1 paper

NM_001172509.2

p.L242I

c.724C>A

1 paper

NM_001172509.2

p.N241fs

c.721_722fs

24 papers

NM_001172509.2

p.R239*

c.715C>T

1 paper

NM_001172509.2

p.R239fs

c.715_716fs

1 paper

NM_001172509.2

p.D244E

c.732C>G

2 papers

NM_001172509.2

p.D244E

c.732C>A

1 paper

NM_001172509.2

p.V237M

c.709G>A

2 papers

NM_001172509.2

p.C246*

c.738T>A

1 paper

NM_001172509.2

p.L248R

c.743T>G

1 paper

NM_001172509.2

p.E235*

c.703G>T

7 papers

NM_001172509.2

p.Q250*

c.748C>T

1 paper

NM_001172509.2

p.Q250Q

c.750G>A