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.E508K

c.1522G>A

Surrounding Variants

1 paper

NM_002215.4

p.G513R

c.1537G>A

1 paper

NM_002215.4

p.G513R

c.1537G>C

1 paper

NM_002215.4

p.Y503H

c.1507T>C

1 paper

NM_002215.4

p.P478fs

c.1432_1433fs

1 paper

NM_002215.4

p.K477insFs

c.1431dupA

1 paper

NM_002215.4

p.Q469_G470Splc

c.1407+2T>A

1 paper

NM_002215.4

p.R454W

c.1360C>T

1 paper

NM_002215.4

p.P429L

c.1286C>T

1 paper

NM_002215.4

p.K418K

c.1254G>A

2 papers

NM_002215.4

p.T411M

c.1232C>T

1 paper

NM_002215.4

p.E544D

c.1632G>C

1 paper

NM_002215.4

p.E544D

c.1632G>T