Varaico: Literature-Extracted Genetic Variants

ITIH1

79 papers

RefSeq Summary

This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is ...

Pfam Domains

VITaa 53–164UCSCVault protein inter-alpha-trypsin domain

VWAaa 292–474UCSCvon Willebrand factor type A domain

ITI_HC_Caa 705–892UCSCInter-alpha-trypsin inhibitor heavy chain C-terminus

Gene Aliases

HGNC Name

inter-alpha-trypsin inhibitor heavy chain 1

HGNC Alias Symbols

H1P; IATIH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002215.4

p.S224Y

c.671C>A

Surrounding Variants

1 paper

NM_002215.4

p.L205L

c.613C>T

1 paper

NM_002215.4

p.V187V

c.561G>A

1 paper

NM_002215.4

p.Y175Y

c.525T>C

1 paper

NM_002215.4

p.R170T

c.509G>C

1 paper

NM_002215.4

p.E166A

c.497A>C

1 paper

NM_002215.4

p.V152I

c.454G>A

1 paper

NM_002215.4

p.M143T

c.428T>C

1 paper

NM_002215.4

p.A133D

c.398C>A

2 papers

NM_002215.4

p.S129S

c.387A>C

2 papers

NM_002215.4

p.A127P

c.379G>C

1 paper

NM_002215.4

p.V102Splc

c.306-7C>T

1 paper

NM_002215.4

p.R235H

c.704G>A