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.Y120Y

c.360C>T

Surrounding Variants

1 paper

NM_001291415.2

p.Y120*

c.360C>A

1 paper

NM_001291415.2

p.Y120*

c.360C>G

1 paper

NM_001291415.2

p.Y120F

c.359A>T

4 papers

NM_001291415.2

p.Y119*

c.357C>A

6 papers

NM_001291415.2

p.Y119*

c.357C>G

1 paper

NM_001291415.2

p.Y119_Y120delFs

c.357_358delCT

3 papers

NM_001291415.2

p.Q123*

c.367C>T

1 paper

NM_001291415.2

p.R118K

c.353G>A

1 paper

NM_001291415.2

p.R118M

c.353G>T

1 paper

NM_001291415.2

p.Q123R

c.368A>G

1 paper

NM_001291415.2

p.Q123L

c.368A>T

1 paper

NM_001291415.2

p.S124fs

c.370_371fs