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.N338S

c.1013A>G

Surrounding Variants

1 paper

NM_030569.7

p.G335A

c.1004G>C

1 paper

NM_030569.7

p.V342L

c.1024G>T

1 paper

NM_030569.7

p.V342L

c.1024G>C

1 paper

NM_030569.7

p.I333V

c.997A>G

1 paper

NM_030569.7

p.H346R

c.1037A>G

1 paper

NM_030569.7

p.D329Y

c.985G>T

1 paper

NM_030569.7

p.S349P

c.1045T>C

1 paper

NM_030569.7

p.S349T

c.1045T>A

1 paper

NM_030569.7

p.D353H

c.1057G>C

1 paper

NM_030569.7

p.R356W

c.1066A>T

2 papers

NM_030569.7

p.R356R

c.1066A>C

1 paper

NM_030569.7

p.I355del1

c.1063_1064delGAT