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.S827S

c.2481A>T

Surrounding Variants

2 papers

NM_001291415.2

p.D828Y

c.2482G>T

NM_021140.4

p.D776Y

c.2326G>T

1 paper

NM_001291415.2

p.D828G

c.2483A>G

2 papers

NM_001291415.2

p.D828E

c.2484C>A

1 paper

NM_001291415.2

p.D828E

c.2484C>G

1 paper

NM_001291415.2

p.N829D

c.2485A>G

1 paper

NM_001291415.2

p.N829S

c.2486A>G

1 paper

NM_001291415.2

p.N829I

c.2486A>T

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.Q831*

c.2491C>T

1 paper

NM_001291415.2

p.L824S

c.2471T>C

1 paper

NM_001291415.2

p.L824_L825del2

c.2470_2474del6