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

5 papers

NM_001384125.1

p.I978T

c.2933T>C

Surrounding Variants

1 paper

NM_001384125.1

p.S985L

c.2954C>T

1 paper

NM_001384125.1

p.T991I

c.2972C>T

1 paper

NM_001384125.1

p.R994C

c.2980C>T

2 papers

NM_001384125.1

p.R1019*

c.3055C>T

1 paper

NM_001384125.1

p.E1032K

c.3094G>A

1 paper

NM_001384125.1

p.L1075I

c.3223T>A

1 paper

NM_001384125.1

p.R1108Splc

c.3323+1G>A

6 papers

NM_001384125.1

p.R968C

c.2902C>T

1 paper

NM_001384125.1

p.H945Y

c.2833C>T

1 paper

NM_001384125.1

p.L932P

c.2795T>C

1 paper

NM_001384125.1

p.Q931_L932Splc

c.2793+3A>G

1 paper

NM_001384125.1

p.V918V

c.2754G>A