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

1 paper

NM_002216.3

p.I216F

c.646A>T

Surrounding Variants

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

1 paper

NM_002216.3

p.Q245H

c.735G>T

1 paper

NM_002216.3

p.K246_A247Splc

c.739-8C>T

1 paper

NM_002216.3

p.T254A

c.760A>G

1 paper

NM_002216.3

p.T254M

c.761C>T

1 paper

NM_002216.3

p.A256del1

c.766_767delGCA

1 paper

NM_002216.3

p.Q258K

c.772C>A

2 papers

NM_002216.3

p.N263S

c.788A>G

1 paper

NM_002216.3

p.V274A

c.821T>C

1 paper

NM_002216.3

p.E289_V290Splc

c.868-304G>A