Varaico: Literature-Extracted Genetic Variants

ITIH5

106 papers

RefSeq Summary

This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tum...

Pfam Domains

VITaa 51–159UCSCVault protein inter-alpha-trypsin domain

VWAaa 295–476UCSCvon Willebrand factor type A domain

ITI_HC_Caa 715–909UCSCInter-alpha-trypsin inhibitor heavy chain C-terminus

Gene Aliases

HGNC Name

inter-alpha-trypsin inhibitor heavy chain 5

HGNC Alias Symbol

MGC10848

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030569.7

p.R653*

c.1957C>T

Surrounding Variants

1 paper

NM_030569.7

p.G656A

c.1967G>C

1 paper

NM_030569.7

p.A642G

c.1925C>G

1 paper

NM_030569.7

p.E634D

c.1902G>T

1 paper

NM_030569.7

p.E634D

c.1902G>C

1 paper

NM_030569.7

p.L633Q

c.1898T>A

1 paper

NM_030569.7

p.G632S

c.1894G>A

1 paper

NM_030569.7

p.R629C

c.1885C>T

1 paper

NM_030569.7

p.T616N

c.1847C>A

1 paper

NM_030569.7

p.D594N

c.1780G>A

1 paper

NM_030569.7

p.Q591*

c.1771C>T

1 paper

NM_030569.7

p.T581N

c.1742C>A

1 paper

NM_030569.7

p.L580P

c.1739T>C