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.T233A

c.697A>G

Surrounding Variants

1 paper

NM_001384125.1

p.F231delFs

c.692delT

3 papers

NM_001384125.1

p.D228G

c.683A>G

1 paper

NM_001384125.1

p.I225M

c.675C>G

3 papers

NM_001384125.1

p.N216K

c.648T>A

4 papers

NM_001384125.1

p.N216K

c.648T>G

1 paper

NM_001384125.1

p.K253_L254delFs

c.758_762del5

1 paper

NM_001384125.1

p.R211H

c.632G>A

1 paper

NM_001384125.1

p.E255*

c.763G>T

1 paper

NM_001384125.1

p.V268_N272del0

c.802_816del15

1 paper

NM_001384125.1

p.T209_G210Splc

c.627+49A>G

1 paper

NM_001384125.1

p.S208N

c.623G>A

1 paper

NM_001384125.1

p.V183A

c.548T>C