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

9 papers

NM_002215.4

p.E585V

c.1754A>T

Surrounding Variants

7 papers

NM_002215.4

p.Q595R

c.1784A>G

1 paper

NM_002215.4

p.T604T

c.1812C>T

1 paper

NM_002215.4

p.K626R

c.1877A>G

1 paper

NM_002215.4

p.D630N

c.1888G>A

1 paper

NM_002215.4

p.P632L

c.1895C>T

1 paper

NM_002215.4

p.R578Q

c.1733G>A

1 paper

NM_002215.4

p.R552*

c.1654C>T

1 paper

NM_002215.4

p.M547V

c.1639A>G

1 paper

NM_002215.4

p.E544D

c.1632G>C

1 paper

NM_002215.4

p.E544D

c.1632G>T

1 paper

NM_002215.4

p.R661R

c.1981C>A

1 paper

NM_002215.4

p.V669L

c.2005G>C