Varaico: Literature-Extracted Genetic Variants

AMBP

95 papers

RefSeq Summary

This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of l...

Pfam Domains

Lipocalinaa 41–186UCSCLipocalin / cytosolic fatty-acid binding protein family

Kunitz_BPTIaa 230–282UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Kunitz_BPTIaa 286–338UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Gene Aliases

HGNC Name

alpha-1-microglobulin/bikunin precursor

HGNC Previous Symbols

ITI; ITIL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001633.4

p.D104G

c.311A>G

Surrounding Variants

1 paper

NM_001633.4

p.T101T

c.303A>T

1 paper

NM_001633.4

p.S95delFs

c.284delG

1 paper

NM_001633.4

p.G89insFs

c.265_266insGG

1 paper

NM_001633.4

p.G89S

c.265G>A

1 paper

NM_001633.4

p.Y127C

c.380A>G

1 paper

NM_001633.4

p.H141R

c.422A>G

1 paper

NM_001633.4

p.G143R

c.427G>A

1 paper

NM_001633.4

p.W86*

c.258G>A

1 paper

NM_001633.4

p.W86*

c.257G>A

1 paper

NM_001633.4

p.M81K

c.242T>A

1 paper

NM_001633.4

p.S80G

c.238A>G

1 paper

NM_001633.4

p.A77A

c.231G>A