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.D1645A

c.4934A>C

Surrounding Variants

1 paper

NM_014668.4

p.D1646A

c.4937A>C

1 paper

NM_014668.4

p.P1634L

c.4901C>T

1 paper

NM_014668.4

p.E1628K

c.4882G>A

1 paper

NM_014668.4

p.R1624W

c.4870C>T

1 paper

NM_014668.4

p.H1609D

c.4825C>G

1 paper

NM_014668.4

p.P1597A

c.4789C>G

1 paper

NM_014668.4

p.Y1579Y

c.4737C>T

1 paper

NM_014668.4

p.L1558I

c.4672C>A

1 paper

NM_014668.4

p.R1553L

c.4658G>T

1 paper

NM_014668.4

p.K1543N

c.4629A>C

1 paper

NM_014668.4

p.K1543N

c.4629A>T

1 paper

NM_014668.4

p.E1665*

c.4993G>T