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.Q379delFs

c.1135delG

Surrounding Variants

4 papers

NM_001172509.2

p.Q379P

c.1136A>C

1 paper

NM_001172509.2

p.Q379*

c.1135C>T

1 paper

NM_001172509.2

p.Q379fs

c.1135_1136fs

2 papers

NM_001172509.2

p.V377_S378delFs

c.1131_1132delAC

2 papers

NM_001172509.2

p.S378insFs

c.1132_1133insAC

4 papers

NM_001172509.2

p.S378fs

c.1132_1133fs

15 papers

NM_001172509.2

p.V381G

c.1142T>G

1 paper

NM_001172509.2

p.S376I

c.1127G>T

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.A383delFs

c.1148delG

1 paper

NM_001172509.2

p.R374K

c.1121G>A