Varaico: Literature-Extracted Genetic Variants

KDM6A

882 papers

RefSeq Summary

This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-doma...

Pfam Domains

TPR_8aa 205–236UCSCTetratricopeptide repeat

JmjCaa 1133–1241UCSCJmjC domain, hydroxylase

KDM6_C-helaa 1248–1303UCSCLysine-specific demethylase 6/UTY, C-terminal helical domain

KDM6_GATALaa 1320–1380UCSCKDM6, GATA-like

Gene Aliases

HGNC Name

lysine demethylase 6A

HGNC Previous Symbol

UTX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001291415.2

p.Y134insFs

c.400_401insAG

Surrounding Variants

1 paper

NM_001291415.2

p.Y134C

c.401A>G

1 paper

NM_001291415.2

p.Y134*

c.402T>A

1 paper

NM_001291415.2

p.Y134*

c.402T>G

1 paper

NM_001291415.2

p.L133_Y134ins0

c.399_401dupATA

1 paper

NM_001291415.2

p.L133fs

c.397_398fs

1 paper

NM_001291415.2

p.L133fs

c.397_398fs

3 papers

NM_001291415.2

p.G135D

c.404G>A

2 papers

NM_001291415.2

p.G135V

c.404G>T

1 paper

NM_001291415.2

p.F132L

c.396T>G

1 paper

NM_001291415.2

p.F132Y

c.395T>A

1 paper

NM_001291415.2

p.L136fs

c.406_407fs

1 paper

NM_001291415.2

p.A131A

c.393C>T