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.V1725M

c.5173G>A

Surrounding Variants

1 paper

NM_014668.4

p.N1724N

c.5172C>T

1 paper

NM_014668.4

p.Y1733C

c.5198A>G

1 paper

NM_014668.4

p.R1737Q

c.5210G>A

1 paper

NM_014668.4

p.R1737L

c.5210G>T

2 papers

NM_014668.4

p.R1697Q

c.5090G>A

1 paper

NM_014668.4

p.R1697W

c.5089C>T

1 paper

NM_014668.4

p.A1692T

c.5074G>A

4 papers

NM_014668.4

p.D1687N

c.5059G>A

1 paper

NM_014668.4

p.E1665*

c.4993G>T

1 paper

NM_014668.4

p.D1741D

c.5223C>T

1 paper

NM_014668.4

p.D1742A

c.5225A>C

1 paper

NM_014668.4

p.F1745L

c.5233T>C