Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.R493C

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
2 papers
NM_001003800.2
p.R493C
c.1477C>T
Surrounding Variants
1 paper
NM_001003800.2
p.K490R
c.1469A>G
1 paper
NM_001003800.2
p.E497K
c.1489G>A
1 paper
NM_001003800.2
p.E489K
c.1465G>A
1 paper
NM_001003800.2
p.L487P
c.1460T>C
3 papers
NM_001003800.2
p.V485G
c.1454T>G
1 paper
NM_001003800.2
p.V485F
c.1453G>T
1 paper
NM_001003800.2
p.R501W
c.1501C>T
13 papers
NM_001003800.2
p.R501P
c.1502G>C
1 paper
NM_001003800.2
p.T482M
c.1445C>T
1 paper
NM_001003800.2
p.L481P
c.1442T>C
1 paper
NM_001003800.2
p.L481H
c.1442T>A
1 paper
NM_001003800.2
p.A480T
c.1438G>A
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