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.K359R

c.1076A>G

Surrounding Variants

1 paper

NM_002971.6

p.E362*

c.1084G>T

1 paper

NM_002971.6

p.S366L

c.1097C>T

1 paper

NM_002971.6

p.P352S

c.1054C>T

1 paper

NM_002971.6

p.S373A

c.1117T>G

1 paper

NM_002971.6

p.R335delFs

c.1004_1005delTC

1 paper

NM_002971.6

p.K384R

c.1151A>G

1 paper

NM_002971.6

p.K384N

c.1152A>T

1 paper

NM_002971.6

p.K384N

c.1152A>C

1 paper

NM_002971.6

p.Q330R

c.989A>G

1 paper

NM_002971.6

p.A324insFs

c.970_971ins8

4 papers

NM_002971.6

p.Q402R

c.1205A>G

1 paper

NM_002971.6

p.P301S

c.901C>T