Varaico: Literature-Extracted Genetic Variants

GREB1

159 papers

RefSeq Summary

This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Th...

Pfam Domains

GREB1_Naa 58–211UCSCGREB1 N-terminal domain

GREB1_2ndaa 301–605UCSCGREB1, second domain

cpSF2-GREB1aa 658–1377UCSCCircularly permuted SF2 helicase found in GREB1 proteins

TAGTaa 1544–1773UCSCTET-Associated Glycosyltransferase

GREB1_Caa 1786–1949UCSCGREB1 C-terminal region

Gene Aliases

HGNC Name

growth regulating estrogen receptor binding 1

HGNC Alias Symbol

KIAA0575

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014668.4

p.L606R

c.1817T>G

Surrounding Variants

1 paper

NM_014668.4

p.T605P

c.1813A>C

1 paper

NM_014668.4

p.F602I

c.1804T>A

1 paper

NM_014668.4

p.G594W

c.1780G>T

1 paper

NM_014668.4

p.V592_G600del0

c.1775_1798del24

1 paper

NM_014668.4

p.E590*

c.1768G>T

1 paper

NM_014668.4

p.G566Splc

c.1697-1G>A

3 papers

NM_014668.4

p.A632T

c.1894G>A

1 paper

NM_014668.4

p.V636L

c.1906G>C

1 paper

NM_014668.4

p.G566Splc

c.1696+25G>A

1 paper

NM_014668.4

p.A552G

c.1655C>G

1 paper

NM_014668.4

p.S530F

c.1589C>T

2 papers

NM_014668.4

p.L525L

c.1575G>C