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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_002215.4

p.C13C

c.39C>T

1 paper

NM_002215.4

p.A27A

c.81C>T

1 paper

NM_002215.4

p.K36K

c.108G>A

1 paper

NM_002215.4

p.R41*

c.121C>T

1 paper

NM_002215.4

p.G50G

c.150C>T

1 paper

NM_002215.4

p.L56F

c.168G>C

1 paper

NM_002215.4

p.L56F

c.168G>T

1 paper

NM_002215.4

p.R65C

c.193C>T

1 paper

NM_002215.4

p.A86delFs

c.256delG

1 paper

NM_002215.4

p.I97I

c.291C>T

1 paper

NM_002215.4

p.V102I

c.304G>A

1 paper

NM_002215.4

p.V102Splc

c.306-7C>T