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.R389P

c.1166G>C

Surrounding Variants

8 papers

NM_001172509.2

p.R389L

c.1166G>T

9 papers

NM_001172509.2

p.R389H

c.1166G>A

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.T390I

c.1169C>T

7 papers

NM_001172509.2

p.Q391*

c.1171C>T

1 paper

NM_001172509.2

p.Q391R

c.1172A>G

3 papers

NM_001172509.2

p.Q391P

c.1172A>C

1 paper

NM_001172509.2

p.Q391_G392Splc

c.1173+1G>A

1 paper

NM_001172509.2

p.Q391_G392Splc

c.1173+2T>G

4 papers

NM_001172509.2

p.Q391_G392Splc

c.1173+2T>C

3 papers

NM_001172509.2

p.A386V

c.1157C>T