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

7 papers

NM_000271.5

p.G1034R

c.3100G>A

Surrounding Variants

1 paper

NM_000271.5

p.G1034*

c.3100G>T

7 papers

NM_000271.5

p.G1034R

c.3100G>C

1 paper

NM_000271.5

p.V1033G

c.3098T>G

1 paper

NM_000271.5

p.V1033A

c.3098T>C

1 paper

NM_000271.5

p.R1032_V1033delFs

c.3096_3097delCC

21 papers

NM_000271.5

p.V1033F

c.3097G>T

1 paper

NM_000271.5

p.V1033I

c.3097G>A

1 paper

NM_000271.5

p.R1032fs

c.3094_3095fs

34 papers

NM_000271.5

p.A1035V

c.3104C>T

1 paper

NM_000271.5

p.A1035D

c.3104C>A

1 paper

NM_000271.5

p.R1032W

c.3094A>T

3 papers

NM_000271.5

p.T1036A

c.3106A>G