Varaico: Literature-Extracted Genetic Variants

NPC1

1,140 papers

RefSeq Summary

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domai...

Pfam Domains

NPC1_Naa 22–267UCSCNiemann-Pick C1 N terminus

NPC1_MLDaa 392–607UCSCNPC1, middle luminal domain

Sterol-sensingaa 649–803UCSCSterol-sensing domain of SREBP cleavage-activation

Gene Aliases

HGNC Name

NPC intracellular cholesterol transporter 1

HGNC Alias Symbol

SLC65A1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000271.5

p.T362N

c.1085C>A

Surrounding Variants

1 paper

NM_000271.5

p.T362insFs

c.1084dupA

1 paper

NM_000271.5

p.T362fs

c.1084_1085fs

1 paper

NM_000271.5

p.A363V

c.1088C>T

1 paper

NM_000271.5

p.I361V

c.1081A>G

1 paper

NM_000271.5

p.F360L

c.1080C>G

1 paper

NM_000271.5

p.F360L

c.1080C>A

1 paper

NM_000271.5

p.F360V

c.1078T>G

1 paper

NM_000271.5

p.F360L

c.1078T>C

2 papers

NM_000271.5

p.S365P

c.1093T>C

1 paper

NM_000271.5

p.A363_C364del2

c.1087_1091del6

3 papers

NM_000271.5

p.S365L

c.1094C>T

1 paper

NM_000271.5

p.T362_S365delFs

c.1084_1093del10