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.L896delFs

c.2686delC

Surrounding Variants

1 paper

NM_001291415.2

p.S892R

c.2676T>A

1 paper

NM_001291415.2

p.S892R

c.2676T>G

1 paper

NM_001291415.2

p.S892R

c.2674A>C

1 paper

NM_021140.4

p.N839fs

c.2515_2516fs

3 papers

NM_021140.4

p.N839fs

c.2515_2516fs

NM_001291415.2

p.N891fs

c.2671_2672fs

1 paper

NM_001291415.2

p.H900fs

c.2698_2699fs

1 paper

NM_001291415.2

p.H900_G908delFs

c.2700_2724del25

4 papers

NM_021140.4

p.N839_S840delFs

c.2515_2518del4

1 paper

NM_001291415.2

p.S901N

c.2702G>A

1 paper

NM_021140.4

p.T836insFs

c.2506dupA

1 paper

NM_021140.4

p.E834D

c.2502G>C

1 paper

NM_021140.4

p.E834D

c.2502G>T