Varaico: Literature-Extracted Genetic Variants

MCOLN1

521 papers

RefSeq Summary

This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functi...

Pfam Domains

MCLN_ECDaa 90–285UCSCMucolipin, extracytosolic domain

PKD_channelaa 378–524UCSCPolycystin cation channel

Gene Aliases

HGNC Name

mucolipin TRP cation channel 1

HGNC Alias Symbols

TRPML1; ML4; MLIV; MST080; MSTP080; TRPM-L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020533.3

p.F477L

c.1431C>A

Surrounding Variants

1 paper

NM_020533.3

p.F477L

c.1431C>G

1 paper

NM_020533.3

p.A478V

c.1433C>T

1 paper

NM_020533.3

p.F477L

c.1429T>C

1 paper

NM_020533.3

p.T476M

c.1427C>T

1 paper

NM_020533.3

p.A479T

c.1435G>A

1 paper

NM_020533.3

p.A479S

c.1435G>T

2 papers

NM_020533.3

p.T476A

c.1426A>G

1 paper

NM_020533.3

p.T476fs

c.1426_1427fs

1 paper

NM_020533.3

p.A479V

c.1436C>T

1 paper

NM_020533.3

p.T476delFs

c.1426_1427delAC

1 paper

NM_020533.3

p.M480V

c.1438A>G

1 paper

NM_020533.3

p.V475A

c.1424T>C