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.V412delFs

c.1234delG

Surrounding Variants

1 paper

NM_002217.4

p.N414I

c.1241A>T

1 paper

NM_002217.4

p.E406*

c.1216G>T

1 paper

NM_002217.4

p.N434K

c.1302C>A

1 paper

NM_002217.4

p.N434K

c.1302C>G

1 paper

NM_002217.4

p.M439I

c.1317G>A

1 paper

NM_002217.4

p.M439I

c.1317G>C

1 paper

NM_002217.4

p.M439I

c.1317G>T

1 paper

NM_002217.4

p.R449H

c.1346G>A

1 paper

NM_002217.4

p.D457N

c.1369G>A

1 paper

NM_002217.4

p.L460L

c.1380G>A

4 papers

NM_002217.4

p.R377Q

c.1130G>A

1 paper

NM_002217.4

p.R377L

c.1130G>T