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

3 papers

NM_001172509.2

p.A386V

c.1157C>T

Surrounding Variants

1 paper

NM_001172509.2

p.A386S

c.1156G>T

35 papers

NM_001172509.2

p.R389C

c.1165C>T

1 paper

NM_001172509.2

p.R389S

c.1165C>A

3 papers

NM_001172509.2

p.A383delFs

c.1148delG

8 papers

NM_001172509.2

p.R389L

c.1166G>T

1 paper

NM_001172509.2

p.R389P

c.1166G>C

9 papers

NM_001172509.2

p.R389H

c.1166G>A

2 papers

NM_001172509.2

p.A383P

c.1147G>C

2 papers

NM_001172509.2

p.A383fs

c.1147_1148fs

3 papers

NM_001172509.2

p.T390I

c.1169C>T

7 papers

NM_001172509.2

p.Q391*

c.1171C>T

15 papers

NM_001172509.2

p.V381G

c.1142T>G