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.G689R

c.2065G>C

Surrounding Variants

1 paper

NM_014668.4

p.G689R

c.2065G>A

1 paper

NM_014668.4

p.D695G

c.2084A>G

1 paper

NM_014668.4

p.D680Y

c.2038G>T

1 paper

NM_014668.4

p.T710I

c.2129C>T

1 paper

NM_014668.4

p.V667I

c.1999G>A

1 paper

NM_014668.4

p.T731T

c.2193G>A

1 paper

NM_014668.4

p.Q747*

c.2239C>T

1 paper

NM_014668.4

p.H773N

c.2317C>A

1 paper

NM_014668.4

p.V636L

c.1906G>C

3 papers

NM_014668.4

p.A632T

c.1894G>A

1 paper

NM_014668.4

p.L606R

c.1817T>G

1 paper

NM_014668.4

p.T605P

c.1813A>C