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

1–12 of 90 variants

9 papers

NM_002215.4

p.E585V

c.1754A>T

7 papers

NM_002215.4

p.Q595R

c.1784A>G

2 papers

NM_002215.4

p.A127P

c.379G>C

2 papers

NM_002215.4

p.S129S

c.387A>C

2 papers

NM_002215.4

p.D298A

c.893A>C

2 papers

NM_002215.4

p.K307R

c.920A>G

2 papers

NM_002215.4

p.I399M

c.1197C>G

2 papers

NM_002215.4

p.T411M

c.1232C>T

2 papers

NM_002215.4

p.E508K

c.1522G>A

2 papers

NM_002215.4

p.T794I

c.2381C>T

1 paper

NM_002215.4

p.M1T

c.2T>C

1 paper

NM_002215.4

p.C13C

c.39C>T