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.A115T

c.343G>A

Surrounding Variants

1 paper

NM_001291415.2

p.A115fs

c.343_344fs

1 paper

NM_001291415.2

p.A115G

c.344C>G

1 paper

NM_001291415.2

p.Y116_Q117del2

c.346_350del6

3 papers

NM_001291415.2

p.S114C

c.341C>G

1 paper

NM_001291415.2

p.Y116H

c.346T>C

1 paper

NM_001291415.2

p.Y116_Q117del1

c.347_349delACC

1 paper

NM_001291415.2

p.Y116*

c.348C>A

1 paper

NM_001291415.2

p.Y116*

c.348C>G

2 papers

NM_001291415.2

p.Q117*

c.349C>T

1 paper

NM_001291415.2

p.Q117fs

c.349_350fs

1 paper

NM_001291415.2

p.A112fs

c.334_335fs

2 papers

NM_001291415.2

p.A112Splc

c.335-1G>A