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.Q3351_S3352Splc

c.10054-1G>T

Surrounding Variants

4 papers

NM_001384125.1

p.G3385R

c.10153G>A

5 papers

NM_001384125.1

p.G3385R

c.10153G>C

2 papers

NM_001384125.1

p.D3404E

c.10212C>A

2 papers

NM_001384125.1

p.D3404E

c.10212C>G

1 paper

NM_001384125.1

p.T3310K

c.9929C>A

3 papers

NM_001384125.1

p.A3290A

c.9870C>T

1 paper

NM_001384125.1

p.S3257*

c.9770C>A

1 paper

NM_001384125.1

p.S3257*

c.9770C>G

1 paper

NM_001384125.1

p.F3239S

c.9716T>C

1 paper

NM_001384125.1

p.C3209Y

c.9626G>A

1 paper

NM_001384125.1

p.G3433A

c.10298G>C

1 paper

NM_001384125.1

p.T3446delFs

c.10336delA