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.M63I

c.189G>A

Surrounding Variants

1 paper

NM_002216.3

p.M63I

c.189G>C

1 paper

NM_002216.3

p.M63I

c.189G>T

5 papers

NM_002216.3

p.S60L

c.179C>T

1 paper

NM_002216.3

p.Y75S

c.224A>C

1 paper

NM_002216.3

p.S79Y

c.236C>A

1 paper

NM_002216.3

p.I81V

c.241A>G

1 paper

NM_002216.3

p.M85K

c.254T>A

1 paper

NM_002216.3

p.A86delFs

c.256delG

1 paper

NM_002216.3

p.A86P

c.256G>C

1 paper

NM_002216.3

p.P99S

c.295C>T

1 paper

NM_002216.3

p.V105M

c.313G>A

1 paper

NM_002216.3

p.K112Q

c.334A>C