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

1–12 of 117 variants

5 papers

NM_002216.3

p.S60L

c.179C>T

5 papers

NM_002216.3

p.L569V

c.1705C>G

4 papers

NM_002216.3

p.V177M

c.529G>A

3 papers

NM_002216.3

p.R394W

c.1180C>T

3 papers

NM_002216.3

p.N467S

c.1400A>G

3 papers

NM_002216.3

p.V544A

c.1631T>C

2 papers

NM_002216.3

p.M1T

c.2T>C

2 papers

NM_002216.3

p.N263S

c.788A>G

2 papers

NM_002216.3

p.M333I

c.999G>A

2 papers

NM_002216.3

p.M333I

c.999G>C

2 papers

NM_002216.3

p.M333I

c.999G>T

2 papers

NM_002216.3

p.A373insFs

c.1119dupC