Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TINAG

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

1–12 of 67 variants

3 papers

chr6:54308615 A>G

NM_014464.4

p.Q22R

c.65A>G

Exome: 9.5% (AC=138488, hom=7066)Genome: 9.3% (AC=14103, hom=735)70 overlapping SVs

3 papers

chr6:54326864 G>A

NM_014464.4

p.R191H

c.572G>A

Exome: 0.0% (AC=152, hom=2)Genome: 0.0% (AC=11, hom=0)70 overlapping SVs

3 papers

chr6:54349825 C>G

NM_014464.4

p.P337A

c.1009C>G

Peptidase_C1

Exome: 0.1% (AC=1184, hom=4)Genome: 0.2% (AC=363, hom=0)71 overlapping SVs

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

2 papers

chr6:54308786 C>T

NM_014464.4

p.A79V

c.236C>T

Exome: 0.0% (AC=539, hom=2)Genome: 0.0% (AC=68, hom=0)70 overlapping SVs

2 papers

chr6:54321349 T>C

NM_014464.4

p.S158P

c.472T>C

Exome: 66.5% (AC=971405, hom=325044)Genome: 70.4% (AC=107135, hom=38194)71 overlapping SVs

2 papers

chr6:54326853 T>C

NM_014464.4

p.G187G

c.561T>C

exact variant not in gnomAD70 overlapping SVs

2 papers

chr6:54326888 C>T

NM_014464.4

p.P199L

c.596C>T

Exome: 11.1% (AC=161657, hom=9535)Genome: 11.9% (AC=18087, hom=1244)70 overlapping SVs

2 papers

chr6:54354528 G>A

NM_014464.4

p.R381H

c.1142G>A

Peptidase_C1

Exome: 17.3% (AC=250915, hom=23467)Genome: 14.8% (AC=22382, hom=1827)70 overlapping SVs

1 paper

chr6:54308552 T>C

NM_014464.4

p.M1T

c.2T>C

exact variant not in gnomAD70 overlapping SVs

1 paper

chr6:54308555 G>A

NM_014464.4

p.W2*

c.5G>A

exact variant not in gnomAD70 overlapping SVs

1 paper

chr6:54308556 G>A

NM_014464.4

p.W2*

c.6G>A

exact variant not in gnomAD70 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."