Varaico: Literature-Extracted Genetic Variants

SATB1

104 papers

RefSeq Summary

This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulat...

Pfam Domains

ULDaa 72–170UCSCUbiquitin-like oligomerisation domain of SATB

CUTLaa 176–247UCSCCUT1-like DNA-binding domain of SATB

CUTaa 366–445UCSCCUT domain

CUTaa 489–568UCSCCUT domain

Homeodomainaa 645–702UCSCHomeodomain

Gene Aliases

HGNC Name

SATB homeobox 1

HGNC Previous Name

special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002971.6

p.S185A

c.553T>G

Surrounding Variants

1 paper

NM_002971.6

p.P181L

c.542C>T

1 paper

NM_002971.6

p.E177Q

c.529G>C

1 paper

NM_002971.6

p.S203R

c.607A>C

1 paper

NM_002971.6

p.S203R

c.609T>G

1 paper

NM_002971.6

p.S203R

c.609T>A

1 paper

NM_002971.6

p.S212delFs

c.634delA

1 paper

NM_002971.6

p.V160L

c.478G>T

1 paper

NM_002971.6

p.V160L

c.478G>C

1 paper

NM_002971.6

p.P149S

c.445C>T

1 paper

NM_002971.6

p.P141fs

c.421_422fs

1 paper

NM_002971.6

p.V140delFs

c.420delA

1 paper

NM_002971.6

p.K136Q

c.406A>C