Varaico: Literature-Extracted Genetic Variants

BLTP1

223 papers

RefSeq Summary

This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associate...

Pfam Domains

BLTP1_Naa 1–1116UCSCBLTP1-like family N-terminal region

BLTP1_Maa 1612–3072UCSCBLTP1-like family middle region

BLTP1_Caa 3078–3521UCSCBLTP1-like family C-terminal region

BLTP1_Caa 3572–5093UCSCBLTP1-like family C-terminal region

Gene Aliases

HGNC Name

bridge-like lipid transfer protein family member 1

HGNC Previous Symbol

KIAA1109

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001384125.1

p.A1668T

c.5002G>A

Surrounding Variants

1 paper

NM_001384125.1

p.D1659N

c.4975G>A

1 paper

NM_001384125.1

p.A1643T

c.4927G>A

1 paper

NM_001384125.1

p.R1639Splc

c.4917-10T>C

1 paper

NM_001384125.1

p.L1680F

c.5040A>C

1 paper

NM_001384125.1

p.L1680F

c.5040A>T

1 paper

NM_001384125.1

p.R1639Splc

c.4916+2T>C

1 paper

NM_001384125.1

p.T1695A

c.5083A>G

1 paper

NM_001384125.1

p.P1631R

c.4892C>G

2 papers

NM_001384125.1

p.P1631L

c.4892C>T

1 paper

NM_001384125.1

p.I1726V

c.5176A>G

1 paper

NM_001384125.1

p.E1603Q

c.4807G>C

1 paper

NM_001384125.1

p.K1590fs

c.4768_4769fs