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.A834V

c.2501C>T

Surrounding Variants

1 paper

NM_001291415.2

p.A834T

c.2500G>A

1 paper

NM_021140.4

p.A782delFs

c.2345delC

1 paper

NM_021140.4

p.S781Y

c.2342C>A

1 paper

NM_001291415.2

p.L836M

c.2506T>A

1 paper

NM_001291415.2

p.L832H

c.2495T>A

1 paper

NM_001291415.2

p.L832insFs

c.2495_2496insAT

1 paper

NM_001291415.2

p.Q831*

c.2491C>T

1 paper

NM_001291415.2

p.K839delFs

c.2517delA

3 papers

NM_001291415.2

p.K839_A840delFs

c.2515_2518del4

1 paper

NM_001291415.2

p.N829K

c.2487T>A

1 paper

NM_001291415.2

p.N829K

c.2487T>G

1 paper

NM_001291415.2

p.N829S

c.2486A>G