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

7 papers

NM_001172509.2

p.L86R

c.257T>G

Surrounding Variants

1 paper

NM_001172509.2

p.V85G

c.254T>G

1 paper

NM_001172509.2

p.V85D

c.254T>A

1 paper

NM_001172509.2

p.R88Q

c.263G>A

1 paper

NM_001172509.2

p.A82_R88delFs

c.245_263del19

1 paper

NM_001172509.2

p.K89R

c.266A>G

1 paper

NM_001172509.2

p.A82T

c.244G>A

1 paper

NM_001172509.2

p.A82fs

c.244_245fs

1 paper

NM_001172509.2

p.E80*

c.238G>T

1 paper

NM_001172509.2

p.F93fs

c.277_278fs

1 paper

NM_001172509.2

p.F93insFs

c.279dupT

1 paper

NM_001172509.2

p.F93delFs

c.279delA

4 papers

NM_001172509.2

p.L96R

c.287T>G