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

1–12 of 487 variants

35 papers

NM_001172509.2

p.R389C

c.1165C>T

24 papers

NM_001172509.2

p.R239*

c.715C>T

16 papers

NM_001172509.2

p.R399H

c.1196G>A

15 papers

NM_001172509.2

p.R283*

c.847C>T

15 papers

NM_001172509.2

p.V381G

c.1142T>G

13 papers

NM_001172509.2

p.R459*

c.1375C>T

11 papers

NM_001172509.2

p.R429*

c.1285C>T

11 papers

NM_001172509.2

p.R429Q

c.1286G>A

9 papers

NM_001172509.2

p.R389H

c.1166G>A

9 papers

NM_001172509.2

p.E396Q

c.1186G>C

8 papers

NM_001172509.2

p.R389L

c.1166G>T

7 papers

NM_001172509.2

p.L86R

c.257T>G