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.R292S

c.876G>T

Surrounding Variants

1 paper

NM_001291415.2

p.R292Splc

c.875+1G>A

1 paper

NM_001291415.2

p.R292S

c.876G>C

1 paper

NM_001291415.2

p.R292K

c.875G>A

1 paper

NM_001291415.2

p.R292Splc

c.875+5G>T

5 papers

NM_001291415.2

p.G291R

c.871G>A

5 papers

NM_001291415.2

p.G291R

c.871G>C

1 paper

NM_001291415.2

p.L290P

c.869T>C

1 paper

NM_001291415.2

p.L290insFs

c.869_870insT

1 paper

NM_001291415.2

p.L290_G291delFs

c.869_872del4

1 paper

NM_001291415.2

p.F289fs

c.865_866fs

1 paper

NM_001291415.2

p.Y288C

c.863A>G

3 papers

NM_001291415.2

p.Y288N

c.862T>A