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.A2T

c.4G>A

Surrounding Variants

1 paper

NM_002217.4

p.S16N

c.47G>A

1 paper

NM_002217.4

p.P36P

c.108G>A

1 paper

NM_002217.4

p.T55N

c.164C>A

1 paper

NM_002217.4

p.T73S

c.217A>T

2 papers

NM_002217.4

p.P84A

c.250C>G

1 paper

NM_002217.4

p.P84P

c.252C>T

1 paper

NM_002217.4

p.T86delFs

c.256delA

1 paper

NM_002217.4

p.D97D

c.291C>T

1 paper

NM_002217.4

p.A118T

c.352G>A

1 paper

NM_002217.4

p.G122R

c.364G>C

1 paper

NM_002217.4

p.T124P

c.370A>C

1 paper

NM_002217.4

p.K129T

c.386A>C