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

Selected Variant

1 paper

NM_001080512.3

p.D103G

c.308A>G

Surrounding Variants

1 paper

NM_001080512.3

p.K116N

c.348A>C

1 paper

NM_001080512.3

p.K116N

c.348A>T

1 paper

NM_001080512.3

p.M121L

c.361A>T

1 paper

NM_001080512.3

p.M123I

c.369G>A

1 paper

NM_001080512.3

p.M123I

c.369G>C

1 paper

NM_001080512.3

p.M123I

c.369G>T

2 papers

NM_001080512.3

p.K129_S130Splc

c.387+1G>C

1 paper

NM_001080512.3

p.R132*

c.394C>T

1 paper

NM_001080512.3

p.E143E

c.429A>G

1 paper

NM_001080512.3

p.G152V

c.455G>T

1 paper

NM_001080512.3

p.N153delFs

c.457delA

1 paper

NM_001080512.3

p.I155N

c.464T>A