Varaico: Literature-Extracted Genetic Variants

Gene:BICD1
Variant:p.E451D

BICD1

78 papers

RefSeq Summary

This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubul...

Pfam Domains

BicDaa 74–799UCSCMicrotubule-associated protein Bicaudal-D

Gene Aliases

HGNC Name

BICD cargo adaptor 1

HGNC Previous Names

Bicaudal D (Drosophila) homolog 1; bicaudal D homolog 1 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001714.4
p.E451D
c.1353G>T
Surrounding Variants
1 paper
NM_001714.4
p.E451D
c.1353G>C
2 papers
NM_001714.4
p.K438N
c.1314G>C
2 papers
NM_001714.4
p.K438N
c.1314G>T
1 paper
NM_001714.4
p.N495S
c.1484A>G
1 paper
NM_001714.4
p.H404Y
c.1210C>T
2 papers
NM_001714.4
p.S499S
c.1497T>C
1 paper
NM_001714.4
p.E394Q
c.1180G>C
1 paper
NM_001714.4
p.G393W
c.1177G>T
1 paper
NM_001714.4
p.E390E
c.1170G>A
1 paper
NM_001714.4
p.L387F
c.1159C>T
1 paper
NM_001714.4
p.L381P
c.1142T>C
1 paper
NM_001714.4
p.T372T
c.1116A>T
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