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

2 papers

NM_002215.4

p.D298A

c.893A>C

Surrounding Variants

1 paper

NM_002215.4

p.I297T

c.890T>C

1 paper

NM_002215.4

p.S302F

c.905C>T

1 paper

NM_002215.4

p.M303I

c.909G>A

1 paper

NM_002215.4

p.M303I

c.909G>C

1 paper

NM_002215.4

p.M303I

c.909G>T

2 papers

NM_002215.4

p.K307R

c.920A>G

1 paper

NM_002215.4

p.Q284K

c.850C>A

1 paper

NM_002215.4

p.R264*

c.790C>T

1 paper

NM_002215.4

p.F256del1

c.766_768delTTC

1 paper

NM_002215.4

p.R235H

c.704G>A

1 paper

NM_002215.4

p.L315I

c.943C>A

1 paper

NM_002215.4

p.D329G

c.986A>G