Varaico: Literature-Extracted Genetic Variants

ITIH6

82 papers

RefSeq Summary

The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and o...

Pfam Domains

VITaa 37–148UCSCVault protein inter-alpha-trypsin domain

VWAaa 283–468UCSCvon Willebrand factor type A domain

ITI_HC_Caa 1116–1297UCSCInter-alpha-trypsin inhibitor heavy chain C-terminus

Gene Aliases

HGNC Name

inter-alpha-trypsin inhibitor heavy chain family member 6

HGNC Previous Symbol

ITIH5L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198510.3

p.Y22H

c.64T>C

Surrounding Variants

1 paper

NM_198510.3

p.L13L

c.39G>A

1 paper

NM_198510.3

p.L13V

c.37T>G

1 paper

NM_198510.3

p.S32N

c.95G>A

1 paper

NM_198510.3

p.M37I

c.111G>T

1 paper

NM_198510.3

p.M37I

c.111G>C

1 paper

NM_198510.3

p.M37I

c.111G>A

1 paper

NM_198510.3

p.T45T

c.135G>A

1 paper

NM_198510.3

p.E68*

c.202G>T

1 paper

NM_198510.3

p.P76L

c.227C>T

1 paper

NM_198510.3

p.N90H

c.268A>C

1 paper

NM_198510.3

p.K100E

c.298A>G

1 paper

NM_198510.3

p.Q102L

c.305A>T