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.R561K

c.1682G>A

Surrounding Variants

1 paper

NM_030569.7

p.P562A

c.1684C>G

1 paper

NM_030569.7

p.G563*

c.1687G>T

1 paper

NM_030569.7

p.D569fs

c.1705_1706fs

5 papers

NM_030569.7

p.T570P

c.1708A>C

1 paper

NM_030569.7

p.A552V

c.1655C>T

1 paper

NM_030569.7

p.T570delins

c.1708_1709delinsCG

1 paper

NM_030569.7

p.Q550L

c.1649A>T

1 paper

NM_030569.7

p.E574K

c.1720G>A

1 paper

NM_030569.7

p.V547L

c.1639G>T

1 paper

NM_030569.7

p.V547L

c.1639G>C

1 paper

NM_030569.7

p.D544H

c.1630G>C

1 paper

NM_030569.7

p.L580P

c.1739T>C