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.L297R

c.890T>G

Surrounding Variants

1 paper

NM_001172509.2

p.S299fs

c.895_896fs

1 paper

NM_001172509.2

p.S299_P300delFs

c.895_898del4

1 paper

NM_001172509.2

p.Q301*

c.901C>T

3 papers

NM_001172509.2

p.Q290*

c.868C>T

1 paper

NM_001172509.2

p.L306H

c.917T>A

1 paper

NM_001172509.2

p.A288T

c.862G>A

1 paper

NM_001172509.2

p.P287S

c.859C>T

1 paper

NM_001172509.2

p.V286insFs

c.858dupG

1 paper

NM_001172509.2

p.V286insFs

c.857dupT

2 papers

NM_001172509.2

p.Q310ins4

c.929_930ins12

1 paper

NM_001172509.2

p.I311T

c.932T>C

15 papers

NM_001172509.2

p.R283*

c.847C>T