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

2 papers

NM_001080512.3

p.T423S

c.1267A>T

Surrounding Variants

2 papers

NM_001080512.3

p.T423S

c.1268C>G

1 paper

NM_001080512.3

p.A431S

c.1291G>T

1 paper

NM_001080512.3

p.G436S

c.1306G>A

1 paper

NM_001080512.3

p.S399R

c.1197T>A

1 paper

NM_001080512.3

p.S399R

c.1197T>G

1 paper

NM_001080512.3

p.S399R

c.1195A>C

1 paper

NM_001080512.3

p.G456Splc

c.1367-34A>T

1 paper

NM_001080512.3

p.P460S

c.1378C>T

1 paper

NM_001080512.3

p.T467N

c.1400C>A

1 paper

NM_001080512.3

p.L475L

c.1423T>C

1 paper

NM_001080512.3

p.L475F

c.1425G>C

1 paper

NM_001080512.3

p.L475F

c.1425G>T