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

Selected Variant

1 paper

NM_001258249.2

p.D316Y

c.946G>T

Surrounding Variants

1 paper

NM_001258249.2

p.S307insFs

c.920_921insT

1 paper

NM_001258249.2

p.I302_S303insFs

c.906_907insT

1 paper

NM_001258249.2

p.I302fs

c.904_905fs

1 paper

NM_001258249.2

p.D345Y

c.1033G>T

1 paper

NM_001258249.2

p.A441A

c.1323T>A

1 paper

NM_001258249.2

p.Q462Q

c.1386G>A

1 paper

NM_001258249.2

p.S548R

c.1642A>C

1 paper

NM_001258249.2

p.S548R

c.1644T>G

1 paper

NM_001258249.2

p.S548R

c.1644T>A

2 papers

NM_001258249.2

p.R605H

c.1814G>A

1 paper

NM_001258249.2

p.T261P

c.781A>C