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.F1856L

c.5568T>A

Surrounding Variants

1 paper

NM_001384125.1

p.F1856L

c.5568T>G

1 paper

NM_001384125.1

p.F1856L

c.5566T>C

4 papers

NM_001384125.1

p.V1867M

c.5599G>A

2 papers

NM_001384125.1

p.P1883H

c.5648C>A

1 paper

NM_001384125.1

p.S1923R

c.5767A>C

1 paper

NM_001384125.1

p.S1923R

c.5769T>A

1 paper

NM_001384125.1

p.S1923R

c.5769T>G

1 paper

NM_001384125.1

p.E1926*

c.5776G>T

1 paper

NM_001384125.1

p.V1930delFs

c.5788delG

3 papers

NM_001384125.1

p.D1951E

c.5853T>A

3 papers

NM_001384125.1

p.D1951E

c.5853T>G

1 paper

NM_001384125.1

p.C1956Y

c.5867G>A