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

1–12 of 1711 variants

17 papers

NM_001291415.2

p.R172*

c.514C>T

13 papers

NM_001291415.2

p.R165*

c.493C>T

9 papers

NM_001291415.2

p.S726Y

c.2177C>A

8 papers

NM_001291415.2

p.E1102K

c.3304G>A

7 papers

NM_001291415.2

p.G137V

c.410G>T

7 papers

NM_001291415.2

p.Q333*

c.997C>T

6 papers

NM_001291415.2

p.Y119*

c.357C>G

5 papers

NM_001291415.2

p.W127*

c.380G>A

5 papers

NM_001291415.2

p.W127*

c.381G>A

5 papers

NM_001291415.2

p.Q147*

c.439C>T

5 papers

NM_001291415.2

p.G291R

c.871G>A

5 papers

NM_001291415.2

p.G291R

c.871G>C