Varaico: Literature-Extracted Genetic Variants

BICC1

144 papers

RefSeq Summary

This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein...

Pfam Domains

KH_BICC1_1staa 49–124UCSCBICC1, first type I KH domain

KH_1aa 134–201UCSCKH domain

KH_BICC1aa 206–280UCSCProtein bicaudal C homolog 1, KH-like domain

KH_1aa 286–350UCSCKH domain

KH_BICC1aa 355–423UCSCProtein bicaudal C homolog 1, KH-like domain

SAM_1aa 874–934UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

BicC family RNA binding protein 1

HGNC Previous Name

bicaudal C homolog 1 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 162 variants

6 papers

NM_001080512.3

p.S943P

c.2827T>C

3 papers

NM_001080512.3

p.R200W

c.598C>T

3 papers

NM_001080512.3

p.S240P

c.718T>C

3 papers

NM_001080512.3

p.G821E

c.2462G>A

3 papers

NM_001080512.3

p.E932G

c.2795A>G

2 papers

NM_001080512.3

p.Q87*

c.259C>T

2 papers

NM_001080512.3

p.K129_S130Splc

c.387+1G>C

2 papers

NM_001080512.3

p.V206M

c.616G>A

2 papers

NM_001080512.3

p.N236S

c.707A>G

2 papers

NM_001080512.3

p.T287T

c.861A>C

2 papers

NM_001080512.3

p.K393_S394Splc

c.1179+1G>T

2 papers

NM_001080512.3

p.T423S

c.1267A>T