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.D129G

c.386A>G

Surrounding Variants

2 papers

NM_014668.4

p.V122A

c.365T>C

2 papers

NM_014668.4

p.A115V

c.344C>T

1 paper

NM_014668.4

p.A115insFs

c.344_345insC

1 paper

NM_014668.4

p.P110L

c.329C>T

1 paper

NM_014668.4

p.P110S

c.328C>T

1 paper

NM_014668.4

p.A149V

c.446C>T

1 paper

NM_014668.4

p.E109K

c.325G>A

1 paper

NM_014668.4

p.G152Splc

c.454+1G>A

1 paper

NM_014668.4

p.A97_G98ins2

c.291_292ins6

1 paper

NM_014668.4

p.A97ins2

c.290_291ins6

1 paper

NM_014668.4

p.C95C

c.285C>T

1 paper

NM_014668.4

p.H82Q

c.246C>A