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.I651M

c.1953T>G

Surrounding Variants

1 paper

NM_002971.6

p.R646W

c.1936C>T

2 papers

NM_002971.6

p.R642*

c.1924C>T

1 paper

NM_002971.6

p.R627W

c.1879C>T

1 paper

NM_002971.6

p.P626delFs

c.1877delG

1 paper

NM_002971.6

p.P626fs

c.1876_1877fs

2 papers

NM_001195470.3

p.L710fs

c.2128_2129fs

NM_002971.6

p.L678fs

c.2032_2033fs

2 papers

NM_001195470.3

p.L710delFs

c.2128_2129delAG

NM_002971.6

p.L678delFs

c.2032_2033delAG

1 paper

NM_002971.6

p.P610Q

c.1829C>A

1 paper

NM_002971.6

p.Q607del1

c.1819_1820delCTG

1 paper

NM_002971.6

p.Q607*

c.1819C>T

1 paper

NM_002971.6

p.Q606delFs

c.1818delC

1 paper

NM_002971.6

p.Q606fs

c.1816_1817fs