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.Y2597Y

c.7791T>C

Surrounding Variants

1 paper

NM_001384125.1

p.M2581I

c.7743G>A

1 paper

NM_001384125.1

p.M2581I

c.7743G>C

1 paper

NM_001384125.1

p.M2581I

c.7743G>T

3 papers

NM_001384125.1

p.D2568D

c.7704T>C

1 paper

NM_001384125.1

p.H2566D

c.7696C>G

1 paper

NM_001384125.1

p.S2564C

c.7690A>T

1 paper

NM_001384125.1

p.R2547Q

c.7640G>A

1 paper

NM_001384125.1

p.R2653*

c.7957C>T

1 paper

NM_001384125.1

p.A2538T

c.7612G>A

3 papers

NM_001384125.1

p.S2521R

c.7563T>A

3 papers

NM_001384125.1

p.S2521R

c.7563T>G

3 papers

NM_001384125.1

p.S2521R

c.7561A>C