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.L10R

c.29T>G

Surrounding Variants

2 papers

NM_001633.4

p.L8L

c.24C>T

1 paper

NM_001633.4

p.A13G

c.38C>G

1 paper

NM_001633.4

p.A16P

c.46G>C

1 paper

NM_001633.4

p.L4L

c.12C>T

1 paper

NM_001633.4

p.M1I

c.3G>A

1 paper

NM_001633.4

p.A19V

c.56C>T

1 paper

NM_001633.4

p.A19A

c.57T>A

1 paper

NM_001633.4

p.M1L

c.1A>T

1 paper

NM_001633.4

p.M1L

c.1A>C

1 paper

NM_001633.4

p.G20R

c.58G>C

1 paper

NM_001633.4

p.P23R

c.68C>G

1 paper

NM_001633.4

p.Q30*

c.88C>T