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

4 papers

NM_001291415.2

p.H1112insFs

c.3335_3336insC

Surrounding Variants

1 paper

NM_021140.4

p.H1060L

c.3179A>T

1 paper

NM_001291415.2

p.H1112_D1114Fs

c.3335_3340delinsCCCGGGAGFs

1 paper

NM_001291415.2

p.H1112_S1113insFs

c.3336_3337insCA

1 paper

NM_001291415.2

p.H1112ins4

c.3334_3335ins12

1 paper

NM_001291415.2

p.H1112insFs

c.3334_3335dupCA

1 paper

NM_001291415.2

p.S1113P

c.3337T>C

1 paper

NM_001291415.2

p.S1113insFs

c.3338dupC

1 paper

NM_001291415.2

p.S1113insFs

c.3337_3338ins7

1 paper

NM_001291415.2

p.D1111_H1112insFs

c.3333_3336dup4

1 paper

NM_001291415.2

p.D1111Fs

c.3332_3333delinsGGTGTAGGGGAGGFs

1 paper

NM_001291415.2

p.S1113ins1

c.3338_3339insCCT

1 paper

NM_001291415.2

p.S1113insFs

c.3338_3339ins8