Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.M2082I

ABCA13

366 papers

RefSeq Summary

In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA ...

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 13

HGNC Alias Symbols

FLJ33876; FLJ33951

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152701.5
p.M2082I
c.6246G>C
Surrounding Variants
1 paper
NM_152701.5
p.M2082I
c.6246G>A
1 paper
NM_152701.5
p.M2082I
c.6246G>T
1 paper
NM_152701.5
p.I2097V
c.6289A>G
1 paper
NM_152701.5
p.Q2100*
c.6298C>T
1 paper
NM_152701.5
p.A2102S
c.6304G>T
1 paper
NM_152701.5
p.A2102G
c.6305C>G
1 paper
NM_152701.5
p.E2106K
c.6316G>A
1 paper
NM_152701.5
p.L2123L
c.6369A>G
1 paper
NM_152701.5
p.W2129R
c.6385T>A
1 paper
NM_152701.5
p.W2129R
c.6385T>C
5 papers
NM_152701.5
p.N2033D
c.6097A>G
1 paper
NM_152701.5
p.L2023I
c.6067C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."