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.K242T

c.725A>C

Surrounding Variants

1 paper

NM_001080512.3

p.Q243*

c.727C>T

1 paper

NM_001080512.3

p.R244H

c.731G>A

3 papers

NM_001080512.3

p.S240P

c.718T>C

1 paper

NM_001080512.3

p.V239L

c.715G>C

1 paper

NM_001080512.3

p.M247fs

c.739_740fs

1 paper

NM_001080512.3

p.I237V

c.709A>G

2 papers

NM_001080512.3

p.N236S

c.707A>G

1 paper

NM_001080512.3

p.R255*

c.763C>T

1 paper

NM_001080512.3

p.R255Q

c.764G>A

1 paper

NM_001080512.3

p.S227F

c.680C>T

1 paper

NM_001080512.3

p.P226H

c.677C>A

1 paper

NM_001080512.3

p.D222N

c.664G>A