Varaico: Literature-Extracted Genetic Variants

ITIH4

82 papers

RefSeq Summary

The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to b...

Pfam Domains

VITaa 35–146UCSCVault protein inter-alpha-trypsin domain

VWAaa 274–456UCSCvon Willebrand factor type A domain

ITI_HC_Caa 765–929UCSCInter-alpha-trypsin inhibitor heavy chain C-terminus

Gene Aliases

HGNC Name

inter-alpha-trypsin inhibitor heavy chain 4

HGNC Previous Symbol

ITIHL1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 95 variants

6 papers

NM_002218.5

p.P698T

c.2092C>A

5 papers

NM_002218.5

p.I85N

c.254T>A

3 papers

NM_002218.5

p.G893S

c.2677G>A

2 papers

NM_002218.5

p.M1T

c.2T>C

2 papers

NM_002218.5

p.G418S

c.1252G>A

2 papers

NM_002218.5

p.L693Splc

c.2077+8G>A

2 papers

NM_002218.5

p.R753H

c.2258G>A

2 papers

NM_002218.5

p.G766Splc

c.2296+8A>G

2 papers

NM_002218.5

p.L791P

c.2372T>C

1 paper

NM_002218.5

p.M1V

c.1A>G

1 paper

NM_002218.5

p.M1delFs

c.3delC

1 paper

NM_002218.5

p.P4delFs

c.11delG