Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.R747C

BICD2

240 papers

RefSeq Summary

This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has als...

Pfam Domains

BicDaa 83–801UCSCMicrotubule-associated protein Bicaudal-D

Gene Aliases

HGNC Name

BICD cargo adaptor 2

HGNC Alias Symbol

KIAA0699

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
15 papers
NM_001003800.2
p.R747C
c.2239C>T
Surrounding Variants
1 paper
NM_001003800.2
p.R747H
c.2240G>A
1 paper
NM_001003800.2
p.M749V
c.2245A>G
2 papers
NM_001003800.2
p.S744F
c.2231C>T
3 papers
NM_001003800.2
p.F743I
c.2227T>A
1 paper
NM_001003800.2
p.A740P
c.2218G>C
1 paper
NM_001003800.2
p.K734del1
c.2200_2202delCTT
4 papers
NM_001003800.2
p.K734N
c.2202G>T
4 papers
NM_001003800.2
p.K734N
c.2202G>C
2 papers
NM_001003800.2
p.K734E
c.2200A>G
2 papers
NM_001003800.2
p.N731S
c.2192A>G
1 paper
NM_001003800.2
p.R730L
c.2189G>T
1 paper
NM_001003800.2
p.L729fs
c.2185_2186fs
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