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.L554S

c.1661T>C

Surrounding Variants

1 paper

NM_002216.3

p.V555A

c.1664T>C

5 papers

NM_002216.3

p.L569V

c.1705C>G

1 paper

NM_002216.3

p.A575T

c.1723G>A

1 paper

NM_002216.3

p.A575V

c.1724C>T

1 paper

NM_002216.3

p.Y586C

c.1757A>G

1 paper

NM_002216.3

p.E595K

c.1783G>A

2 papers

NM_002216.3

p.R596Q

c.1787G>A

2 papers

NM_002216.3

p.A547V

c.1640C>T

3 papers

NM_002216.3

p.V544A

c.1631T>C

1 paper

NM_002216.3

p.E542K

c.1624G>A

1 paper

NM_002216.3

p.I541_E542delFs

c.1623_1626del4

1 paper

NM_002216.3

p.Q502*

c.1504C>T