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.W1110L

c.3329G>T

Surrounding Variants

1 paper

NM_001384125.1

p.G1131S

c.3391G>A

1 paper

NM_001384125.1

p.G1178E

c.3533G>A

4 papers

NM_001384125.1

p.N1204delFs

c.3611delA

1 paper

NM_001384125.1

p.E1203_N1204delins

c.3609_3610delinsAG

4 papers

NM_001384125.1

p.N1204fs

c.3610_3611fs

1 paper

NM_001384125.1

p.R1225*

c.3673C>T

1 paper

NM_001384125.1

p.V1262I

c.3784G>A

1 paper

NM_001384125.1

p.R1108Splc

c.3323+1G>A

1 paper

NM_001384125.1

p.L1075I

c.3223T>A

1 paper

NM_001384125.1

p.E1282G

c.3845A>G

1 paper

NM_001384125.1

p.S1297*

c.3890C>A

1 paper

NM_001384125.1

p.S1297*

c.3890C>G