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.K2T

c.5A>C

Surrounding Variants

2 papers

NM_002216.3

p.M1T

c.2T>C

1 paper

NM_002216.3

p.F8C

c.23T>G

1 paper

NM_002216.3

p.F8F

c.24C>T

1 paper

NM_002216.3

p.N24D

c.70A>G

1 paper

NM_002216.3

p.N24S

c.71A>G

1 paper

NM_002216.3

p.E28_F29Splc

c.84+91T>C

1 paper

NM_002216.3

p.V30A

c.89T>C

1 paper

NM_002216.3

p.L35F

c.103C>T

1 paper

NM_002216.3

p.R50G

c.148C>G

5 papers

NM_002216.3

p.S60L

c.179C>T

1 paper

NM_002216.3

p.M63I

c.189G>A

1 paper

NM_002216.3

p.M63I

c.189G>C