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.R468H

c.1403G>A

Surrounding Variants

1 paper

NM_014668.4

p.A450V

c.1349C>T

1 paper

NM_014668.4

p.P487L

c.1460C>T

1 paper

NM_014668.4

p.T497S

c.1490C>G

1 paper

NM_014668.4

p.N513N

c.1539C>T

1 paper

NM_014668.4

p.E520K

c.1558G>A

2 papers

NM_014668.4

p.L525L

c.1575G>C

1 paper

NM_014668.4

p.S530F

c.1589C>T

1 paper

NM_014668.4

p.A552G

c.1655C>G

1 paper

NM_014668.4

p.G566Splc

c.1696+25G>A

1 paper

NM_014668.4

p.G566Splc

c.1697-1G>A

1 paper

NM_014668.4

p.E590*

c.1768G>T

1 paper

NM_014668.4

p.V592_G600del0

c.1775_1798del24