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.E312*

c.934G>T

Surrounding Variants

4 papers

NM_001384125.1

p.S316G

c.946A>G

1 paper

NM_001384125.1

p.E308K

c.922G>A

1 paper

NM_001384125.1

p.V303I

c.907G>A

4 papers

NM_001384125.1

p.I333insFs

c.997dupA

3 papers

NM_001384125.1

p.I333fs

c.997_998fs

1 paper

NM_001384125.1

p.F341V

c.1021T>G

1 paper

NM_001384125.1

p.P345S

c.1033C>T

1 paper

NM_001384125.1

p.F283fs

c.847_848fs

1 paper

NM_001384125.1

p.F283delFs

c.849delT

1 paper

NM_001384125.1

p.V268_N272del0

c.802_816del15

1 paper

NM_001384125.1

p.E255*

c.763G>T

1 paper

NM_001384125.1

p.K253_L254delFs

c.758_762del5