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.I858S

c.2573T>G

Surrounding Variants

1 paper

NM_001080512.3

p.M855insFs

c.2565dupG

1 paper

NM_001080512.3

p.M855fs

c.2563_2564fs

1 paper

NM_001080512.3

p.G866V

c.2597G>T

1 paper

NM_001080512.3

p.L869L

c.2605T>C

2 papers

NM_001080512.3

p.N870D

c.2608A>G

1 paper

NM_001080512.3

p.D892N

c.2674G>A

1 paper

NM_001080512.3

p.L901F

c.2701C>T

2 papers

NM_001080512.3

p.F904S

c.2711T>C

1 paper

NM_001080512.3

p.T918A

c.2752A>G

3 papers

NM_001080512.3

p.E932G

c.2795A>G

2 papers

NM_001080512.3

p.T845Splc

c.2533+7G>T

1 paper

NM_001080512.3

p.T845A

c.2533A>G