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.L583V

c.1747T>G

Surrounding Variants

1 paper

NM_001384125.1

p.V573L

c.1717G>C

1 paper

NM_001384125.1

p.F565L

c.1695T>A

1 paper

NM_001384125.1

p.Q529E

c.1585C>G

7 papers

NM_001384125.1

p.Y519*

c.1557T>A

7 papers

NM_001384125.1

p.Y519*

c.1557T>G

1 paper

NM_001384125.1

p.G621D

c.1862G>A

4 papers

NM_001384125.1

p.K644Splc

c.1932-3A>G

3 papers

NM_001384125.1

p.S645fs

c.1933_1934fs

1 paper

NM_001384125.1

p.E674K

c.2020G>A

1 paper

NM_001384125.1

p.D699D

c.2097C>T

2 papers

NM_001384125.1

p.P720T

c.2158C>A

1 paper

NM_001384125.1

p.H724Q

c.2172T>A