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.E426D

c.1278A>T

Surrounding Variants

1 paper

NM_001172509.2

p.E426D

c.1278A>C

1 paper

NM_001172509.2

p.V427L

c.1279G>C

1 paper

NM_001172509.2

p.E428V

c.1283A>T

11 papers

NM_001172509.2

p.R429*

c.1285C>T

1 paper

NM_001172509.2

p.R429insFs

c.1285dupC

11 papers

NM_001172509.2

p.R429Q

c.1286G>A

1 paper

NM_001172509.2

p.R431H

c.1292G>A

3 papers

NM_001172509.2

p.Y433S

c.1298A>C

1 paper

NM_001172509.2

p.Y433*

c.1299C>G

1 paper

NM_001172509.2

p.Y433*

c.1299C>A

1 paper

NM_001172509.2

p.Q434*

c.1300C>T

5 papers

NM_001172509.2

p.Q419*

c.1255C>T