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.R309*

c.925A>T

Surrounding Variants

1 paper

NM_002217.4

p.A306V

c.917C>T

9 papers

NM_002217.4

p.Q315K

c.943C>A

1 paper

NM_002217.4

p.L320P

c.959T>C

3 papers

NM_002217.4

p.T340M

c.1019C>T

1 paper

NM_002217.4

p.S353R

c.1057A>C

1 paper

NM_002217.4

p.S353R

c.1059C>A

1 paper

NM_002217.4

p.S353R

c.1059C>G

1 paper

NM_002217.4

p.R298W

c.892C>T

1 paper

NM_002217.4

p.S292R

c.876C>A

1 paper

NM_002217.4

p.S292R

c.876C>G

1 paper

NM_002217.4

p.S292S

c.876C>T

1 paper

NM_002217.4

p.S292R

c.874A>C