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

1 paper

NM_002971.6

p.Q525L

c.1574A>T

Surrounding Variants

3 papers

NM_002971.6

p.Q525R

c.1574A>G

1 paper

NM_002971.6

p.K475N

c.1425A>T

1 paper

NM_002971.6

p.K475N

c.1425A>C

1 paper

NM_002971.6

p.Q473_V474Splc

c.1420-2A>T

1 paper

NM_002971.6

p.P462P

c.1386C>A

1 paper

NM_002971.6

p.S451R

c.1353C>G

1 paper

NM_002971.6

p.S451R

c.1353C>A

1 paper

NM_002971.6

p.S451R

c.1351A>C

3 papers

NM_002971.6

p.Q420R

c.1259A>G

1 paper

NM_002971.6

p.Q420P

c.1259A>C

1 paper

NM_002971.6

p.K416N

c.1248G>T

1 paper

NM_002971.6

p.K416N

c.1248G>C