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

2 papers

NM_001384125.1

p.T811A

c.2431A>G

Surrounding Variants

1 paper

NM_001384125.1

p.L803L

c.2409T>A

1 paper

NM_001384125.1

p.P802L

c.2405C>T

1 paper

NM_001384125.1

p.P802A

c.2404C>G

1 paper

NM_001384125.1

p.I766T

c.2297T>C

1 paper

NM_001384125.1

p.M758_F762del5

c.2272_2285del15

2 papers

NM_001384125.1

p.G754R

c.2260G>A

2 papers

NM_001384125.1

p.G754R

c.2260G>C

3 papers

NM_001384125.1

p.Q871_Q872Splc

c.2613+1G>A

1 paper

NM_001384125.1

p.D877V

c.2630A>T

1 paper

NM_001384125.1

p.H895H

c.2685C>T

1 paper

NM_001384125.1

p.P904S

c.2710C>T

3 papers

NM_001384125.1

p.P904P

c.2712T>A