Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.L683R

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
8 papers
NM_001003800.2
p.L683R
c.2048T>G
Surrounding Variants
1 paper
NM_001003800.2
p.L683P
c.2048T>C
1 paper
NM_001003800.2
p.L683_S684delFs
c.2049_2050delTG
4 papers
NM_001003800.2
p.S681L
c.2042C>T
1 paper
NM_001003800.2
p.L679R
c.2036T>G
1 paper
NM_001003800.2
p.E688G
c.2063A>G
1 paper
NM_001003800.2
p.Q689R
c.2066A>G
1 paper
NM_001003800.2
p.T692S
c.2074A>T
23 papers
NM_001003800.2
p.R694C
c.2080C>T
1 paper
NM_001003800.2
p.R694H
c.2081G>A
1 paper
NM_001003800.2
p.A671V
c.2012C>T
1 paper
NM_001003800.2
p.E670K
c.2008G>A
1 paper
NM_001003800.2
p.V665_D666ins0
c.1993_1998dup6
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