Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN2
Variant:p.L397V

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.L397V
c.1189C>G
Surrounding Variants
1 paper
NM_153259.4
p.F381L
c.1143T>G
1 paper
NM_153259.4
p.F381L
c.1143T>A
1 paper
NM_153259.4
p.F381L
c.1141T>C
1 paper
NM_153259.4
p.C378F
c.1133G>T
1 paper
NM_153259.4
p.V405L
c.1213G>T
1 paper
NM_153259.4
p.V405L
c.1213G>C
1 paper
NM_153259.4
p.R419P
c.1256G>C
6 papers
NM_153259.4
p.A424P
c.1270G>C
1 paper
NM_153259.4
p.A424V
c.1271C>T
2 papers
NM_153259.4
p.G425A
c.1274G>C
1 paper
NM_153259.4
p.C434Y
c.1301G>A
5 papers
NM_153259.4
p.K370Q
c.1108A>C
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