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.S456R

c.1368C>G

Surrounding Variants

1 paper

NM_001172509.2

p.S456R

c.1368C>A

1 paper

NM_001172509.2

p.S457F

c.1370C>T

1 paper

NM_001172509.2

p.S456R

c.1366A>C

1 paper

NM_001172509.2

p.P455L

c.1364C>T

13 papers

NM_001172509.2

p.R459*

c.1375C>T

1 paper

NM_001172509.2

p.R459P

c.1376G>C

1 paper

NM_001172509.2

p.R459Q

c.1376G>A

1 paper

NM_001172509.2

p.Q462_A463Splc

c.1386+1G>T

2 papers

NM_001172509.2

p.S450fs

c.1348_1349fs

1 paper

NM_001172509.2

p.M441V

c.1321A>G

1 paper

NM_001172509.2

p.R439fs

c.1315_1316fs

2 papers

NM_001172509.2

p.E436V

c.1307A>T