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.E170K

c.508G>A

Surrounding Variants

1 paper

NM_014668.4

p.G204E

c.611G>A

1 paper

NM_014668.4

p.L206V

c.616T>G

1 paper

NM_014668.4

p.E213Splc

c.637+152C>T

1 paper

NM_014668.4

p.E213Splc

c.638-3T>C

1 paper

NM_014668.4

p.P220T

c.658C>A

1 paper

NM_014668.4

p.P220S

c.658C>T

1 paper

NM_014668.4

p.P220L

c.659C>T

1 paper

NM_014668.4

p.S225F

c.674C>T

1 paper

NM_014668.4

p.P230T

c.688C>A

1 paper

NM_014668.4

p.T235T

c.705G>T

1 paper

NM_014668.4

p.V243I

c.727G>A

1 paper

NM_014668.4

p.G245E

c.734G>A