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

3 papers

NM_014668.4

p.G387Splc

c.1160-1G>A

Surrounding Variants

1 paper

NM_014668.4

p.L406L

c.1218C>T

1 paper

NM_014668.4

p.S414F

c.1241C>T

1 paper

NM_014668.4

p.S433F

c.1298C>T

1 paper

NM_014668.4

p.G387Splc

c.1160-1365G>A

4 papers

NM_014668.4

p.F359L

c.1077T>A

4 papers

NM_014668.4

p.F359L

c.1077T>G

4 papers

NM_014668.4

p.F359L

c.1075T>C

1 paper

NM_014668.4

p.C328Y

c.983G>A

1 paper

NM_014668.4

p.H313Q

c.939C>A

1 paper

NM_014668.4

p.H313Q

c.939C>G

1 paper

NM_014668.4

p.R312C

c.934C>T

1 paper

NM_014668.4

p.P308L

c.923C>T