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.V358M

c.1072G>A

Surrounding Variants

1 paper

NM_001172509.2

p.N355T

c.1064A>C

1 paper

NM_001172509.2

p.E352D

c.1056G>T

1 paper

NM_001172509.2

p.E352D

c.1056G>C

3 papers

NM_001172509.2

p.K350R

c.1049A>G

2 papers

NM_001172509.2

p.V368F

c.1102G>T

1 paper

NM_001172509.2

p.V368fs

c.1102_1103fs

1 paper

NM_001172509.2

p.V368_R369delFs

c.1103_1106del4

1 paper

NM_001172509.2

p.D370V

c.1109A>T

1 paper

NM_001172509.2

p.K373R

c.1118A>G

1 paper

NM_001172509.2

p.R374K

c.1121G>A

1 paper

NM_001172509.2

p.S376I

c.1127G>T

1 paper

NM_001172509.2

p.F339fs

c.1015_1016fs