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.E610K

c.1828G>A

Surrounding Variants

1 paper

NM_002217.4

p.D617V

c.1850A>T

1 paper

NM_002217.4

p.F594S

c.1781T>C

1 paper

NM_002217.4

p.E576G

c.1727A>G

1 paper

NM_002217.4

p.R570H

c.1709G>A

1 paper

NM_002217.4

p.R570S

c.1708C>A

1 paper

NM_002217.4

p.I554V

c.1660A>G

1 paper

NM_002217.4

p.G523_A524Splc

c.1570-16T>C

1 paper

NM_002217.4

p.G523R

c.1567G>A

1 paper

NM_002217.4

p.G523R

c.1567G>C

1 paper

NM_002217.4

p.R506H

c.1517G>A

1 paper

NM_002217.4

p.N490D

c.1468A>G

1 paper

NM_002217.4

p.L485P

c.1454T>C