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.Y183insFs

c.549dupT

Surrounding Variants

1 paper

NM_001291415.2

p.Y183C

c.548A>G

1 paper

NM_001291415.2

p.Y183H

c.547T>C

1 paper

NM_001291415.2

p.E184_S185insA

c.550_554ins3

2 papers

NM_001291415.2

p.E184*

c.550G>T

1 paper

NM_001291415.2

p.E184delFs

c.551delA

1 paper

NM_001291415.2

p.E184fs

c.550_551fs

1 paper

NM_001291415.2

p.T181I

c.542C>T

1 paper

NM_001291415.2

p.S185_L187Fs

c.554_559delinsTGTGFs

1 paper

NM_001291415.2

p.T181fs

c.541_542fs

1 paper

NM_001291415.2

p.T181S

c.541A>T

1 paper

NM_001291415.2

p.S186G

c.556A>G

1 paper

NM_001291415.2

p.T181delFs

c.542_543delCA