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.P1173delFs

c.3518delC

Surrounding Variants

2 papers

NM_014668.4

p.A1172V

c.3515C>T

1 paper

NM_014668.4

p.P1173fs

c.3517_3518fs

1 paper

NM_014668.4

p.P1179T

c.3535C>A

1 paper

NM_014668.4

p.S1187S

c.3561G>A

1 paper

NM_014668.4

p.E1156Q

c.3466G>C

3 papers

NM_014668.4

p.P1153L

c.3458C>T

1 paper

NM_014668.4

p.S1146L

c.3437C>T

1 paper

NM_014668.4

p.P1200P

c.3600C>T

4 papers

NM_014668.4

p.G1143D

c.3428G>A

2 papers

NM_014668.4

p.G1142S

c.3424G>A

1 paper

NM_014668.4

p.R1209W

c.3625A>T

1 paper

NM_014668.4

p.S1214S

c.3642G>C