Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN2
Variant:p.D115A

MCOLN2

70 papers

RefSeq Summary

Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN...

Pfam Domains

MCLN_ECDaa 90–275UCSCMucolipin, extracytosolic domain
PKD_channelaa 371–513UCSCPolycystin cation channel

Gene Aliases

HGNC Name

mucolipin TRP cation channel 2

HGNC Alias Symbols

TRPML2; FLJ36691; TRP-ML2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_153259.4
p.D115A
c.344A>C
Surrounding Variants
2 papers
NM_153259.4
p.D116A
c.347A>C
2 papers
NM_153259.4
p.E114A
c.341A>C
1 paper
NM_153259.4
p.D113A
c.338A>C
1 paper
NM_153259.4
p.D113N
c.337G>A
1 paper
NM_153259.4
p.D126H
c.376G>C
1 paper
NM_153259.4
p.S130T
c.389G>C
1 paper
NM_153259.4
p.F93delFs
c.279delG
1 paper
NM_153259.4
p.R82C
c.244C>T
1 paper
NM_153259.4
p.T145A
c.433A>G
1 paper
NM_153259.4
p.P175H
c.524C>A
1 paper
NM_153259.4
p.E178V
c.533A>T
1 paper
NM_153259.4
p.I230T
c.689T>C
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."