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

1–12 of 99 variants

4 papers

NM_002971.6

p.Q402R

c.1205A>G

3 papers

NM_002971.6

p.Q420R

c.1259A>G

3 papers

NM_002971.6

p.Q525R

c.1574A>G

2 papers

NM_002971.6

p.N18I

c.53A>T

2 papers

NM_002971.6

p.S185A

c.553T>G

2 papers

NM_002971.6

p.E530K

c.1588G>A

2 papers

NM_002971.6

p.E547K

c.1639G>A

2 papers

NM_002971.6

p.R642*

c.1924C>T

1 paper

NM_002971.6

p.E34A

c.101A>C

1 paper

NM_002971.6

p.K51E

c.151A>G

1 paper

NM_002971.6

p.V80A

c.239T>C

1 paper

NM_002971.6

p.H82Y

c.244C>T