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

1–12 of 89 variants

9 papers

NM_002217.4

p.Q315K

c.943C>A

4 papers

NM_002217.4

p.R377Q

c.1130G>A

3 papers

NM_002217.4

p.V254M

c.760G>A

3 papers

NM_002217.4

p.T340M

c.1019C>T

3 papers

NM_002217.4

p.R678C

c.2032C>T

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

2 papers

NM_002217.4

p.P84A

c.250C>G

2 papers

NM_002217.4

p.R789H

c.2366G>A

1 paper

NM_002217.4

p.A2T

c.4G>A

1 paper

NM_002217.4

p.S16N

c.47G>A