Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN2
Variant:p.N278K

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
1 paper
NM_153259.4
p.N278K
c.834C>A
Surrounding Variants
1 paper
NM_153259.4
p.N278K
c.834C>G
1 paper
NM_153259.4
p.N254Y
c.760A>T
1 paper
NM_153259.4
p.Q247E
c.739C>G
1 paper
NM_153259.4
p.I230T
c.689T>C
1 paper
NM_153259.4
p.Y289H
c.865T>C
1 paper
NM_153259.4
p.V290I
c.868G>A
1 paper
NM_153259.4
p.S311F
c.932C>T
2 papers
NM_153259.4
p.L314R
c.941T>G
2 papers
NM_153259.4
p.K329*
c.985A>T
1 paper
NM_153259.4
p.D338N
c.1012G>A
1 paper
NM_153259.4
p.Y347C
c.1040A>G
1 paper
NM_153259.4
p.G360V
c.1079G>T
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