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.T1325delFs

c.3974delC

Surrounding Variants

1 paper

NM_001384125.1

p.T1325fs

c.3973_3974fs

3 papers

NM_001384125.1

p.Y1329S

c.3986A>C

6 papers

NM_001384125.1

p.Y1329C

c.3986A>G

1 paper

NM_001384125.1

p.R1309Q

c.3926G>A

1 paper

NM_001384125.1

p.R1309*

c.3925C>T

1 paper

NM_001384125.1

p.S1297*

c.3890C>A

1 paper

NM_001384125.1

p.S1297*

c.3890C>G

1 paper

NM_001384125.1

p.E1282G

c.3845A>G

1 paper

NM_001384125.1

p.S1373delFs

c.4118_4119delCT

1 paper

NM_001384125.1

p.M1386I

c.4158G>A

1 paper

NM_001384125.1

p.M1386I

c.4158G>C

1 paper

NM_001384125.1

p.M1386I

c.4158G>T