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.S869_S872del4

c.2605_2615del12

Surrounding Variants

1 paper

NM_001291415.2

p.S869_S870insT

c.2605_2609ins3

1 paper

NM_021140.4

p.S818L

c.2453C>T

1 paper

NM_001291415.2

p.S866_V867insFs

c.2598_2599insT

1 paper

NM_021140.4

p.S814F

c.2441C>T

1 paper

NM_001291415.2

p.P871L

c.2612C>T

1 paper

NM_021140.4

p.S814fs

c.2440_2441fs

1 paper

NM_021140.4

p.S814delFs

c.2441_2442delCT

1 paper

NM_001291415.2

p.S872_S873insC

c.2614_2618ins3

1 paper

NM_001291415.2

p.T863delins

c.2589delinsA

1 paper

NM_021140.4

p.H808Y

c.2422C>T

1 paper

NM_001291415.2

p.H860delFs

c.2578_2579delCA

1 paper

NM_001291415.2

p.H856L

c.2567A>T