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.F315L

c.943T>C

Surrounding Variants

1 paper

NM_001633.4

p.P316L

c.947C>T

1 paper

NM_001633.4

p.V313I

c.937G>A

1 paper

NM_001633.4

p.K311R

c.932A>G

1 paper

NM_001633.4

p.C320Y

c.959G>A

1 paper

NM_001633.4

p.A307D

c.920C>A

1 paper

NM_001633.4

p.Y328C

c.983A>G

1 paper

NM_001633.4

p.C333R

c.997T>C

1 paper

NM_001633.4

p.C296fs

c.886_887fs

2 papers

NM_001633.4

p.A286V

c.857C>T

1 paper

NM_001633.4

p.A286G

c.857C>G

1 paper

NM_001633.4

p.F271S

c.812T>C

1 paper

NM_001633.4

p.F271L

c.811T>C