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

1–12 of 293 variants

7 papers

NM_001384125.1

p.Y519*

c.1557T>A

7 papers

NM_001384125.1

p.Y519*

c.1557T>G

6 papers

NM_001384125.1

p.R968C

c.2902C>T

6 papers

NM_001384125.1

p.Y1329C

c.3986A>G

6 papers

NM_015312.4

p.E4023*

c.12067G>T

5 papers

NM_001384125.1

p.I978T

c.2933T>C

5 papers

NM_001384125.1

p.C1732R

c.5194T>C

5 papers

NM_001384125.1

p.R1958Q

c.5873G>A

5 papers

NM_001384125.1

p.P3050H

c.9149C>A

5 papers

NM_001384125.1

p.G3385R

c.10153G>C

4 papers

NM_001384125.1

p.N216K

c.648T>G

4 papers

NM_001384125.1

p.S316G

c.946A>G