Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.L449H

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
1 paper
NM_001003800.2
p.L449H
c.1346T>A
Surrounding Variants
2 papers
NM_001003800.2
p.R450C
c.1348C>T
1 paper
NM_001003800.2
p.R457C
c.1369C>T
1 paper
NM_001003800.2
p.R457H
c.1370G>A
1 paper
NM_001003800.2
p.H440Y
c.1318C>T
1 paper
NM_001003800.2
p.Y439*
c.1317C>G
1 paper
NM_001003800.2
p.T459M
c.1376C>T
1 paper
NM_001003800.2
p.E461K
c.1381G>A
1 paper
NM_001003800.2
p.E433Q
c.1297G>C
1 paper
NM_001003800.2
p.G431W
c.1291G>T
1 paper
NM_001003800.2
p.E426Q
c.1276G>C
1 paper
NM_001003800.2
p.R473C
c.1417C>T
1 paper
NM_001003800.2
p.Y424C
c.1271A>G
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