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

1–12 of 200 variants

5 papers

NM_014668.4

p.N77T

c.230A>C

4 papers

NM_014668.4

p.F359L

c.1075T>C

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.G1143D

c.3428G>A

4 papers

NM_014668.4

p.D1687N

c.5059G>A

3 papers

NM_014668.4

p.G387Splc

c.1160-1G>A

3 papers

NM_014668.4

p.A632T

c.1894G>A

3 papers

NM_014668.4

p.P1153L

c.3458C>T

2 papers

NM_014668.4

p.A115V

c.344C>T

2 papers

NM_014668.4

p.V122A

c.365T>C

2 papers

NM_014668.4

p.S298W

c.893C>G