Varaico: Literature-Extracted Genetic Variants

ITIH2

108 papers

RefSeq Summary

The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. Th...

Pfam Domains

VITaa 72–183UCSCVault protein inter-alpha-trypsin domain

VWAaa 310–492UCSCvon Willebrand factor type A domain

ITI_HC_Caa 735–921UCSCInter-alpha-trypsin inhibitor heavy chain C-terminus

Gene Aliases

HGNC Name

inter-alpha-trypsin inhibitor heavy chain 2

HGNC Alias Symbol

H2P

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002216.3

p.V177M

c.529G>A

Surrounding Variants

1 paper

NM_002216.3

p.Q178H

c.534G>T

1 paper

NM_002216.3

p.Y183F

c.548A>T

1 paper

NM_002216.3

p.R189S

c.567G>C

1 paper

NM_002216.3

p.R189S

c.567G>T

1 paper

NM_002216.3

p.M162V

c.484A>G

1 paper

NM_002216.3

p.Y199C

c.596A>G

1 paper

NM_002216.3

p.G203A

c.608G>C

1 paper

NM_002216.3

p.H208Y

c.622C>T

1 paper

NM_002216.3

p.I216F

c.646A>T

1 paper

NM_002216.3

p.D228N

c.682G>A

1 paper

NM_002216.3

p.V239V

c.717C>G

1 paper

NM_002216.3

p.Q245H

c.735G>C