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

5 papers

NM_000271.5

p.S1004P

c.3010T>C

Surrounding Variants

22 papers

NM_000271.5

p.S1004L

c.3011C>T

2 papers

NM_000271.5

p.L1003R

c.3008T>G

1 paper

NM_000271.5

p.F1002L

c.3006C>G

1 paper

NM_000271.5

p.F1002L

c.3006C>A

2 papers

NM_000271.5

p.D1005V

c.3014A>T

50 papers

NM_000271.5

p.D1005G

c.3014A>G

1 paper

NM_000271.5

p.F1002L

c.3004T>C

1 paper

NM_000271.5

p.M1001delFs

c.3003delC

1 paper

NM_000271.5

p.M1001fs

c.3001_3002fs

3 papers

NM_000271.5

p.M1001T

c.3002T>C

163 papers

NM_000271.5

p.P1007A

c.3019C>G

7 papers

NM_000271.5

p.M1001V

c.3001A>G