Varaico: Literature-Extracted Genetic Variants

ITIH1

79 papers

RefSeq Summary

This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is ...

Pfam Domains

VITaa 53–164UCSCVault protein inter-alpha-trypsin domain

VWAaa 292–474UCSCvon Willebrand factor type A domain

ITI_HC_Caa 705–892UCSCInter-alpha-trypsin inhibitor heavy chain C-terminus

Gene Aliases

HGNC Name

inter-alpha-trypsin inhibitor heavy chain 1

HGNC Alias Symbols

H1P; IATIH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002215.4

p.I838fs

c.2512_2513fs

Surrounding Variants

1 paper

NM_002215.4

p.P837insFs

c.2510_2511ins13

1 paper

NM_002215.4

p.G839S

c.2515G>A

1 paper

NM_002215.4

p.G832Splc

c.2495-5T>C

1 paper

NM_002215.4

p.S849S

c.2547T>C

1 paper

NM_002215.4

p.R864Q

c.2591G>A

1 paper

NM_002215.4

p.T866M

c.2597C>T

1 paper

NM_002215.4

p.S876I

c.2627G>T

1 paper

NM_002215.4

p.P879L

c.2636C>T

1 paper

NM_002215.4

p.H881R

c.2642A>G

1 paper

NM_002215.4

p.D904Y

c.2710G>T

1 paper

NM_002215.4

p.G829R

c.2485G>A

1 paper

NM_002215.4

p.G829R

c.2485G>C