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.T3446delFs

c.10336delA

Surrounding Variants

1 paper

NM_001384125.1

p.T3446fs

c.10336_10337fs

1 paper

NM_001384125.1

p.S3492A

c.10474T>G

1 paper

NM_001384125.1

p.K3571K

c.10713A>G

1 paper

NM_001384125.1

p.A3590T

c.10768G>A

1 paper

NM_001384125.1

p.V3608V

c.10824G>C

1 paper

NM_001384125.1

p.G3433A

c.10298G>C

1 paper

NM_015312.4

p.K3557Splc

c.10671-1G>C

1 paper

NM_001384125.1

p.K3624insFs

c.10872dupA

1 paper

NM_015312.4

p.S3578F

c.10733C>T

2 papers

NM_001384125.1

p.D3404E

c.10212C>A

2 papers

NM_001384125.1

p.D3404E

c.10212C>G

4 papers

NM_001384125.1

p.G3385R

c.10153G>A