Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN2
Variant:p.L493R

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.L493R
c.1478T>G
Surrounding Variants
1 paper
NM_153259.4
p.F494Y
c.1481T>A
1 paper
NM_153259.4
p.I498N
c.1493T>A
1 paper
NM_153259.4
p.L501I
c.1501C>A
1 paper
NM_153259.4
p.R484C
c.1450C>T
1 paper
NM_153259.4
p.L481M
c.1441C>A
1 paper
NM_153259.4
p.M465V
c.1393A>G
2 papers
NM_153259.4
p.F457L
c.1371T>G
2 papers
NM_153259.4
p.F457L
c.1371T>A
2 papers
NM_153259.4
p.F457L
c.1369T>C
1 paper
NM_153259.4
p.C434Y
c.1301G>A
2 papers
NM_153259.4
p.G425A
c.1274G>C
1 paper
NM_153259.4
p.A424V
c.1271C>T
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