Varaico: Literature-Extracted Genetic Variants

UTY

41 papers

RefSeq Summary

This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which ...

Pfam Domains

TPR_8aa 202–233UCSCTetratricopeptide repeat

JmjCaa 1122–1230UCSCJmjC domain, hydroxylase

KDM6_C-helaa 1237–1292UCSCLysine-specific demethylase 6/UTY, C-terminal helical domain

KDM6_GATALaa 1309–1369UCSCKDM6, GATA-like

Gene Aliases

HGNC Name

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

HGNC Alias Symbols

KDM6AL; KDM6C

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

3 papers

NM_001258249.2

p.E34G

c.101A>G

2 papers

NM_001258249.2

p.R605H

c.1814G>A

1 paper

NM_001258249.2

p.D17Y

c.49G>T

1 paper

NM_001258249.2

p.E18D

c.54G>T

1 paper

NM_001258249.2

p.E18D

c.54G>C

1 paper

NM_001258249.2

p.M49V

c.145A>G

1 paper

NM_001258249.2

p.L53F

c.157C>T

1 paper

NM_001258249.2

p.A64S

c.190G>T

1 paper

NM_001258249.2

p.E78G

c.233A>G

1 paper

NM_001258249.2

p.L130S

c.389T>C

1 paper

NM_001258265.1

p.Y78C

c.233A>G

1 paper

NM_001258249.2

p.Y137*

c.411C>G