Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WDR82

Variant:p.S6R

WDR82

20 papers

RefSeq Summary

TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 173...

Pfam Domains

WD40aa 11–49UCSCWD domain, G-beta repeat

Beta-prop_NOL10_Naa 57–267UCSCNucleolar protein 10-like, N-terminal domain

Gene Aliases

HGNC Name

WD repeat domain 82

HGNC Previous Symbol

TMEM113

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:52278346 T>G

NM_025222.4

p.S6R

c.16A>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a58 overlapping SVs

Surrounding Variants

1 paper

chr3:52278345 C>A

NM_025222.4

p.S6I

c.17G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a58 overlapping SVs

1 paper

chr3:52278344 G>C

NM_025222.4

p.S6R

c.18C>G

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)58 overlapping SVs

1 paper

chr3:52278344 G>T

NM_025222.4

p.S6R

c.18C>A

exact variant not in gnomAD58 overlapping SVs

1 paper

chr3:52278213 C>A

NM_025222.4

p.C50F

c.149G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a58 overlapping SVs

1 paper

chr3:52270808 G>A

NM_025222.4

p.P55S

c.163C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a58 overlapping SVs

1 paper

chr3:52270717 A>G

NM_025222.4

p.I85T

c.254T>C

Beta-prop_NOL10_N

exact variant not in gnomAD58 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."