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.A263_Y268del6

c.787_803del18

Surrounding Variants

1 paper

NM_001291415.2

p.A263del1

c.787_788delGCC

1 paper

NM_001291415.2

p.A263D

c.788C>A

1 paper

NM_001291415.2

p.T264insFs

c.790_791insT

1 paper

NM_001291415.2

p.T264A

c.790A>G

1 paper

NM_001291415.2

p.D261fs

c.781_782fs

1 paper

NM_001291415.2

p.K265_Q271del7

c.793_812del21

1 paper

NM_001291415.2

p.G260A

c.779G>C

1 paper

NM_001291415.2

p.G260fs

c.778_779fs

1 paper

NM_001291415.2

p.L259P

c.776T>C

1 paper

NM_001291415.2

p.L259R

c.776T>G

2 papers

NM_001291415.2

p.L259M

c.775C>A

1 paper

NM_001291415.2

p.L259L

c.775C>T