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

1–12 of 224 variants

6 papers

NM_030569.7

p.A376V

c.1127C>T

5 papers

NM_030569.7

p.T570P

c.1708A>C

2 papers

NM_030569.7

p.M1insFs

c.1dupA

2 papers

NM_030569.7

p.M1insFs

c.2dupT

2 papers

NM_030569.7

p.R356R

c.1066A>C

1 paper

NM_030569.7

p.S17T

c.49T>A

1 paper

NM_030569.7

p.S17W

c.50C>G

1 paper

NM_030569.7

p.A21V

c.62C>T

1 paper

NM_030569.7

p.S23C

c.67A>T

1 paper

NM_030569.7

p.S27C

c.80C>G

1 paper

NM_030569.7

p.E29V

c.86A>T

1 paper

NM_030569.7

p.L33R

c.98T>G