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

2 papers

NM_002216.3

p.A373insFs

c.1119dupC

Surrounding Variants

1 paper

NM_002216.3

p.K374fs

c.1120_1121fs

2 papers

NM_002216.3

p.E378K

c.1132G>A

1 paper

NM_002216.3

p.G384G

c.1152A>T

2 papers

NM_002216.3

p.G385D

c.1154G>A

1 paper

NM_002216.3

p.R359I

c.1076G>T

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

1 paper

NM_002216.3

p.G385D

c.1154G>A

3 papers

NM_002216.3

p.R394W

c.1180C>T

1 paper

NM_002216.3

p.L408S

c.1223T>C

2 papers

NM_002216.3

p.D423H

c.1267G>C