Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.K508del1

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
3 papers
NM_001003800.2
p.K508del1
c.1522_1523delCTT
Surrounding Variants
9 papers
NM_001003800.2
p.K508T
c.1523A>C
1 paper
NM_001003800.2
p.S510R
c.1528A>C
2 papers
NM_001003800.2
p.V512I
c.1534G>A
1 paper
NM_001003800.2
p.G514S
c.1540G>A
1 paper
NM_001003800.2
p.E515K
c.1543G>A
13 papers
NM_001003800.2
p.R501P
c.1502G>C
1 paper
NM_001003800.2
p.R501W
c.1501C>T
1 paper
NM_001003800.2
p.S519I
c.1556G>T
1 paper
NM_001003800.2
p.L520P
c.1559T>C
1 paper
NM_001003800.2
p.E497K
c.1489G>A
1 paper
NM_001003800.2
p.V522M
c.1564G>A
2 papers
NM_001003800.2
p.R493C
c.1477C>T
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