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

2 papers

NM_001633.4

p.D229Splc

c.685+2T>C

Surrounding Variants

1 paper

NM_001633.4

p.G218G

c.654G>A

1 paper

NM_001633.4

p.G214R

c.640G>A

2 papers

NM_001633.4

p.P209L

c.626C>T

1 paper

NM_001633.4

p.L208P

c.623T>C

1 paper

NM_001633.4

p.V203I

c.607G>A

1 paper

NM_001633.4

p.A237insFs

c.709_710ins47

1 paper

NM_001633.4

p.M254L

c.760A>C

1 paper

NM_001633.4

p.T258I

c.773C>T

1 paper

NM_001633.4

p.M265_G266insGG

c.793_797ins6

1 paper

NM_001633.4

p.M265I

c.795G>A

1 paper

NM_001633.4

p.G268S

c.802G>A

1 paper

NM_001633.4

p.F271L

c.811T>C