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

2 papers

NM_001291415.2

p.P917S

c.2749C>T

Surrounding Variants

1 paper

NM_021140.4

p.Q863*

c.2587C>T

1 paper

NM_021140.4

p.D869_L870insT

c.2605_2609ins3

1 paper

NM_001291415.2

p.D921Y

c.2761G>T

1 paper

NM_021140.4

p.D869V

c.2606A>T

1 paper

NM_001291415.2

p.M911V

c.2731A>G

1 paper

NM_001291415.2

p.N926_H927delFs

c.2776_2779del4

1 paper

NM_001291415.2

p.H927del1

c.2779_2781delCAC

1 paper

NM_021140.4

p.N855insFs

c.2563_2564insG

1 paper

NM_021140.4

p.N855fs

c.2563_2564fs

1 paper

NM_021140.4

p.H875insFs

c.2624dupA

1 paper

NM_021140.4

p.H875delFs

c.2625delC

1 paper

NM_001291415.2

p.Q932_S936del0

c.2794_2808del15