Varaico: Literature-Extracted Genetic Variants

ITIH3

94 papers

RefSeq Summary

This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of ...

Pfam Domains

VITaa 45–156UCSCVault protein inter-alpha-trypsin domain

VWAaa 284–466UCSCvon Willebrand factor type A domain

ITI_HC_Caa 501–679UCSCInter-alpha-trypsin inhibitor heavy chain C-terminus

ITI_HC_Caa 721–908UCSCInter-alpha-trypsin inhibitor heavy chain C-terminus

Gene Aliases

HGNC Name

inter-alpha-trypsin inhibitor heavy chain 3

HGNC Previous Names

inter-alpha (globulin) inhibitor, H3 polypeptide; inter-alpha (globulin) inhibitor H3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002217.4

p.K697delFs

c.2089_2090delAA

Surrounding Variants

1 paper

NM_002217.4

p.T728M

c.2183C>T

3 papers

NM_002217.4

p.R678C

c.2032C>T

1 paper

NM_002217.4

p.P659L

c.1976C>T

1 paper

NM_002217.4

p.D649E

c.1947C>A

1 paper

NM_002217.4

p.D649E

c.1947C>G

3 papers

NM_002217.4

p.M757I

c.2271G>A

3 papers

NM_002217.4

p.M757I

c.2271G>C

3 papers

NM_002217.4

p.M757I

c.2271G>T

1 paper

NM_002217.4

p.V766_F768del3

c.2296_2303del9

2 papers

NM_002217.4

p.R789H

c.2366G>A

1 paper

NM_002217.4

p.R789L

c.2366G>T

1 paper

NM_002217.4

p.S799C

c.2395A>T