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.I962_Q965delFs

c.2886_2895del10

Surrounding Variants

1 paper

NM_000271.5

p.F966S

c.2897T>C

1 paper

NM_000271.5

p.N961_F966delins

c.2882_2897delinsG

1 paper

NM_000271.5

p.N961_F966Fs

c.2882_2897delinsGCFs

1 paper

NM_000271.5

p.Q965H

c.2895G>C

2 papers

NM_000271.5

p.N961_F966del0

c.2883_2897del15

2 papers

NM_000271.5

p.Q965*

c.2893C>T

15 papers

NM_000271.5

p.N968S

c.2903A>G

1 paper

NM_000271.5

p.T963S

c.2888C>G

1 paper

NM_000271.5

p.T963S

c.2887A>T

1 paper

NM_000271.5

p.I962S

c.2885T>G

1 paper

NM_000271.5

p.I962V

c.2884A>G

1 paper

NM_000271.5

p.S970fs

c.2908_2909fs