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.T537S

c.1609A>T

Surrounding Variants

1 paper

NM_001080512.3

p.T537S

c.1610C>G

1 paper

NM_001080512.3

p.Y538insFs

c.1613_1614insGG

1 paper

NM_001080512.3

p.Y538*

c.1614T>A

1 paper

NM_001080512.3

p.Y538*

c.1614T>G

1 paper

NM_001080512.3

p.T541K

c.1622C>A

1 paper

NM_001080512.3

p.L549M

c.1645T>A

1 paper

NM_001080512.3

p.Q524del1

c.1570_1571delCAA

1 paper

NM_001080512.3

p.H516P

c.1547A>C

1 paper

NM_001080512.3

p.Q575_S576Splc

c.1725+35G>C

1 paper

NM_001080512.3

p.G491D

c.1472G>A

1 paper

NM_001080512.3

p.P488S

c.1462C>T

1 paper

NM_001080512.3

p.V482G

c.1445T>G