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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TINAG

Variant:p.I433L

TINAG

63 papers

RefSeq Summary

This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against th...

Pfam Domains

Peptidase_C1aa 229–467UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

tubulointerstitial nephritis antigen

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr6:54389791 A>C

NM_014464.4

p.I433L

c.1297A>C

Peptidase_C1

Exome: 4.4% (AC=62464, hom=2700)Genome: 5.9% (AC=8944, hom=478)72 overlapping SVs

Surrounding Variants

1 paper

chr6:54389792 T>A

NM_014464.4

p.I433N

c.1298T>A

Peptidase_C1

exact variant not in gnomAD72 overlapping SVs

1 paper

chr6:54389822 G>T

NM_014464.4

p.G443V

c.1328G>T

Peptidase_C1

exact variant not in gnomAD72 overlapping SVs

1 paper

chr6:54389887 G>A

NM_014464.4

p.A465T

c.1393G>A

Peptidase_C1

Exome: 0.0% (AC=662, hom=1)Genome: 0.0% (AC=33, hom=0)72 overlapping SVs

1 paper

chr6:54389894 G>C

NM_014464.4

p.W467S

c.1400G>C

Peptidase_C1

exact variant not in gnomAD72 overlapping SVs

1 paper

chr6:54380558 A>C

NM_014464.4

p.K428T

c.1283A>C

Peptidase_C1

Exome: 0.0% (AC=1, hom=0)Genome: n/a69 overlapping SVs

1 paper

chr6:54380552 G>A

NM_014464.4

p.G426E

c.1277G>A

Peptidase_C1

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=3, hom=0)69 overlapping SVs

1 paper

chr6:54380525 G>A

NM_014464.4

p.G417Splc

c.1251-1G>A

Peptidase_C1

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)69 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."