Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCOLN2

Variant:p.I13S

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:84996835 A>C

NM_153259.4

p.I13S

c.38T>G

Exome: 0.0% (AC=168, hom=0)Genome: 0.0% (AC=9, hom=0)242 overlapping SVs

Surrounding Variants

1 paper

chr1:84996845 G>A

NM_153259.4

p.Q10*

c.28C>T

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=4, hom=0)242 overlapping SVs

1 paper

chr1:84996818 C>T

NM_153259.4

p.G19S

c.55G>A

exact variant not in gnomAD242 overlapping SVs

2 papers

chr1:84996815 C>T

NM_153259.4

p.V20I

c.58G>A

Exome: 0.1% (AC=2131, hom=47)Genome: 1.4% (AC=2069, hom=50)242 overlapping SVs

1 paper

chr1:84996800 C>G

NM_153259.4

p.V25L

c.73G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a242 overlapping SVs

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."