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

2 papers

NM_001291415.2

p.K1110insFs

c.3329_3330insG

Surrounding Variants

1 paper

NM_001291415.2

p.K1110_D1111insFs

c.3330_3331ins5

1 paper

NM_001291415.2

p.K1110_D1111ins7

c.3328_3332ins21

2 papers

NM_001291415.2

p.D1111insFs

c.3332_3333ins7

2 papers

NM_001291415.2

p.D1111insFs

c.3331_3332ins4

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.H1112insFs

c.3334_3335dupCA

1 paper

NM_001291415.2

p.H1112ins4

c.3334_3335ins12

1 paper

NM_001291415.2

p.H1108_D1114Fs

c.3324_3340delinsCFs

4 papers

NM_001291415.2

p.H1112insFs

c.3335_3336insC

1 paper

NM_021140.4

p.H1060L

c.3179A>T

1 paper

NM_001291415.2

p.H1112_D1114Fs

c.3335_3340delinsCCCGGGAGFs