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.R2914Q

c.8741G>A

Surrounding Variants

1 paper

NM_001384125.1

p.S2947F

c.8840C>T

2 papers

NM_001384125.1

p.T2950P

c.8848A>C

1 paper

NM_001384125.1

p.P2951T

c.8851C>A

1 paper

NM_001384125.1

p.P2958P

c.8874T>C

1 paper

NM_001384125.1

p.E2963K

c.8887G>A

2 papers

NM_001384125.1

p.R3007T

c.9020G>C

1 paper

NM_001384125.1

p.G3013D

c.9038G>A

1 paper

NM_001384125.1

p.F2851F

c.8553T>C

1 paper

NM_001384125.1

p.Q2847delFs

c.8540delA

1 paper

NM_001384125.1

p.Q2847fs

c.8539_8540fs

1 paper

NM_001384125.1

p.G3013D

c.9038G>A

1 paper

NM_001384125.1

p.P3043T

c.9127C>A