Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN2

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
1–12 of 67 variants
6 papers
NM_153259.4
p.A424P
c.1270G>C
5 papers
NM_153259.4
p.K370Q
c.1108A>C
2 papers
NM_153259.4
p.V20I
c.58G>A
2 papers
NM_153259.4
p.E114A
c.341A>C
2 papers
NM_153259.4
p.D115A
c.344A>C
2 papers
NM_153259.4
p.D116A
c.347A>C
2 papers
NM_153259.4
p.L314R
c.941T>G
2 papers
NM_153259.4
p.K329*
c.985A>T
2 papers
NM_153259.4
p.M365V
c.1093A>G
2 papers
NM_153259.4
p.I367T
c.1100T>C
2 papers
NM_153259.4
p.G425A
c.1274G>C
2 papers
NM_153259.4
p.F457L
c.1369T>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."