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.G427Splc

c.1280-1G>C

Surrounding Variants

1 paper

NM_002216.3

p.N441N

c.1323C>T

1 paper

NM_002216.3

p.S450T

c.1349G>C

1 paper

NM_002216.3

p.N467Y

c.1399A>T

3 papers

NM_002216.3

p.N467S

c.1400A>G

1 paper

NM_002216.3

p.G471V

c.1412G>T

1 paper

NM_002216.3

p.Q474Q

c.1422A>G

1 paper

NM_002216.3

p.R475S

c.1425G>C

1 paper

NM_002216.3

p.R475S

c.1425G>T

1 paper

NM_002216.3

p.Q480*

c.1438C>T

1 paper

NM_002216.3

p.T482T

c.1446G>A

1 paper

NM_002216.3

p.Q492R

c.1475A>G

2 papers

NM_002216.3

p.T495I

c.1484C>T