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_015312.4

p.A4480Splc

c.13438+3A>G

Surrounding Variants

1 paper

NM_001384125.1

p.V4555I

c.13663G>A

1 paper

NM_001384125.1

p.V4529V

c.13587A>T

1 paper

NM_015312.4

p.W4428fs

c.13282_13283fs

1 paper

NM_001384125.1

p.E4615K

c.13843G>A

1 paper

NM_001384125.1

p.W4642C

c.13926G>C

1 paper

NM_001384125.1

p.T4653A

c.13957A>G

1 paper

NM_015312.4

p.I4408V

c.13222A>G

1 paper

NM_015312.4

p.V4404V

c.13212C>T

1 paper

NM_001384125.1

p.R4677Q

c.14030G>A

1 paper

NM_015312.4

p.D4377fs

c.13129_13130fs

1 paper

NM_015312.4

p.L4617Splc

c.13849+11G>C

4 papers

NM_015312.4

p.R4375*

c.13123C>T