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.Q1046H

c.3138G>T

Surrounding Variants

1 paper

NM_000271.5

p.Q1046H

c.3138G>C

1 paper

NM_000271.5

p.L1045_Q1046insFs

c.3135_3136insG

1 paper

NM_000271.5

p.Q1046K

c.3136C>A

1 paper

NM_000271.5

p.L1045insFs

c.3134_3135insG

3 papers

NM_000271.5

p.L1045P

c.3134T>C

1 paper

NM_000271.5

p.L1045Q

c.3134T>A

2 papers

NM_000271.5

p.V1044M

c.3130G>A

1 paper

NM_000271.5

p.A1049V

c.3146C>T

1 paper

NM_000271.5

p.T1043A

c.3127A>G

1 paper

NM_000271.5

p.H1042delFs

c.3126delG

1 paper

NM_000271.5

p.H1042fs

c.3124_3125fs

1 paper

NM_000271.5

p.F1051fs

c.3151_3152fs