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.T755I

c.2264C>T

Surrounding Variants

1 paper

NM_001291415.2

p.A756fs

c.2266_2267fs

1 paper

NM_001291415.2

p.H754delFs

c.2260delC

1 paper

NM_021140.4

p.S706_G707insFs

c.2118_2119insC

1 paper

NM_021140.4

p.G707fs

c.2119_2120fs

1 paper

NM_021140.4

p.G708*

c.2122G>T

1 paper

NM_001291415.2

p.H750_S752delFs

c.2250_2254del5

1 paper

NM_001291415.2

p.H750fs

c.2248_2249fs

1 paper

NM_001291415.2

p.N749H

c.2245A>C

1 paper

NM_001291415.2

p.Q762E

c.2284C>G

2 papers

NM_021140.4

p.N697delFs

c.2090delA

NM_001291415.2

p.N749delFs

c.2246delA

1 paper

NM_021140.4

p.L696_T705del0

c.2088_2114del27

1 paper

NM_001291415.2

p.L748F

c.2242C>T