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.S4118delins

c.12352delinsG

Surrounding Variants

1 paper

NM_001384125.1

p.S4118_S4119del2

c.12352_12356del6

6 papers

NM_015312.4

p.E4023*

c.12067G>T

NM_001384125.1

p.E4111*

c.12331G>T

1 paper

NM_001384125.1

p.V4137L

c.12409G>C

1 paper

NM_001384125.1

p.G4170_E4173del4

c.12508_12518del12

1 paper

NM_015312.4

p.G4118delins

c.12352delinsG

4 papers

NM_015312.4

p.K3856fs

c.11566_11567fs

NM_001384125.1

p.K3944fs

c.11830_11831fs

1 paper

NM_001384125.1

p.T3937A

c.11809A>G

4 papers

NM_015312.4

p.S3750Splc

c.11250-1G>A

NM_001384125.1

p.S3838Splc

c.11514-1G>A

1 paper

NM_001384125.1

p.L4214F

c.12640C>T

1 paper

NM_001384125.1

p.G4273A

c.12818G>C

1 paper

NM_001384125.1

p.R4285Q

c.12854G>A

1 paper

NM_001384125.1

p.S4332ins0

c.12994_12996dupTCT