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.L157_Y158delFs

c.471_472delTT

Surrounding Variants

1 paper

NM_001291415.2

p.L157fs

c.469_470fs

1 paper

NM_001291415.2

p.L157delFs

c.470delT

1 paper

NM_001291415.2

p.L157delFs

c.469_470delCT

1 paper

NM_001291415.2

p.V156M

c.466G>A

1 paper

NM_001291415.2

p.Y158delFs

c.473delA

1 paper

NM_001291415.2

p.V156del1

c.466_467delGTG

1 paper

NM_001291415.2

p.V159delFs

c.476delT

1 paper

NM_001291415.2

p.Q154L

c.461A>T

2 papers

NM_001291415.2

p.Q154E

c.460C>G

1 paper

NM_001291415.2

p.Q154*

c.460C>T

1 paper

NM_001291415.2

p.S162C

c.484A>T

1 paper

NM_001291415.2

p.A152T

c.454G>A