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.E196A

c.587A>C

Surrounding Variants

1 paper

NM_001633.4

p.E196K

c.586G>A

1 paper

NM_001633.4

p.I198T

c.593T>C

1 paper

NM_001633.4

p.Q193*

c.577C>T

4 papers

NM_001633.4

p.E192G

c.575A>G

1 paper

NM_001633.4

p.E187*

c.559G>T

1 paper

NM_001633.4

p.E176D

c.528G>C

1 paper

NM_001633.4

p.E176K

c.526G>A

1 paper

NM_001633.4

p.G173A

c.518G>C

1 paper

NM_001633.4

p.V172V

c.516G>C

1 paper

NM_001633.4

p.Q170H

c.510G>C

1 paper

NM_001633.4

p.A169G

c.506C>G

1 paper

NM_001633.4

p.R166K

c.497G>A