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.L3107P

c.9320T>C

Surrounding Variants

1 paper

NM_001384125.1

p.V3070G

c.9209T>G

1 paper

NM_001384125.1

p.D3068H

c.9202G>C

1 paper

NM_001384125.1

p.D3064H

c.9190G>C

1 paper

NM_001384125.1

p.P3051delFs

c.9153delT

5 papers

NM_001384125.1

p.P3050H

c.9149C>A

1 paper

NM_001384125.1

p.P3043T

c.9127C>A

1 paper

NM_001384125.1

p.G3013D

c.9038G>A

1 paper

NM_001384125.1

p.G3013D

c.9038G>A

2 papers

NM_001384125.1

p.R3007T

c.9020G>C

1 paper

NM_001384125.1

p.E2963K

c.8887G>A

1 paper

NM_001384125.1

p.P2958P

c.8874T>C

1 paper

NM_001384125.1

p.P2951T

c.8851C>A