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.V256I

c.766G>A

Surrounding Variants

1 paper

NM_001291415.2

p.T255I

c.764C>T

1 paper

NM_001291415.2

p.T255P

c.763A>C

2 papers

NM_001291415.2

p.D257Y

c.769G>T

1 paper

NM_001291415.2

p.D257delFs

c.770_771delAT

1 paper

NM_001291415.2

p.T255_D257del3

c.763_770del9

1 paper

NM_001291415.2

p.H254R

c.761A>G

1 paper

NM_001291415.2

p.L258_G260del3

c.772_779del9

1 paper

NM_001291415.2

p.L258_T264del7

c.772_791del21

1 paper

NM_001291415.2

p.H254Y

c.760C>T

1 paper

NM_001291415.2

p.L258F

c.772C>T

1 paper

NM_001291415.2

p.H254_V256del3

c.760_767del9

1 paper

NM_001291415.2

p.H254_G260del7

c.760_779del21