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.R424Q

c.1271G>A

Surrounding Variants

1 paper

NM_030569.7

p.R424G

c.1270C>G

1 paper

NM_030569.7

p.N421H

c.1261A>C

1 paper

NM_030569.7

p.R428*

c.1282C>T

1 paper

NM_030569.7

p.R428R

c.1284A>G

1 paper

NM_030569.7

p.G429A

c.1286G>C

1 paper

NM_030569.7

p.T414M

c.1241C>T

1 paper

NM_030569.7

p.E413K

c.1237G>A

1 paper

NM_030569.7

p.T410R

c.1229C>G

1 paper

NM_030569.7

p.V442M

c.1324G>A

1 paper

NM_030569.7

p.L446V

c.1336C>G

1 paper

NM_030569.7

p.V398M

c.1192G>A

1 paper

NM_030569.7

p.R396W

c.1186C>T