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.E709K

c.2125G>A

Surrounding Variants

1 paper

NM_001291415.2

p.R710_P711del2

c.2128_2132del6

1 paper

NM_001291415.2

p.R710*

c.2128C>T

1 paper

NM_001291415.2

p.G708C

c.2122G>T

1 paper

NM_021140.4

p.G656insFs

c.1966dupG

1 paper

NM_001291415.2

p.N707T

c.2120A>C

1 paper

NM_001291415.2

p.P706R

c.2117C>G

1 paper

NM_001291415.2

p.L712_S713insAAT

c.2134_2138ins9

1 paper

NM_001291415.2

p.A704S

c.2110G>T

2 papers

NM_001291415.2

p.S714C

c.2141C>G

1 paper

NM_001291415.2

p.A704_G705del2

c.2110_2114del6

1 paper

NM_001291415.2

p.S703delFs

c.2108delC

1 paper

NM_001291415.2

p.H702fs

c.2104_2105fs