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.S940F

c.2819C>T

Surrounding Variants

1 paper

NM_001291415.2

p.S940Y

c.2819C>A

1 paper

NM_021140.4

p.Y890insFs

c.2668_2669dupTA

1 paper

NM_001291415.2

p.V939_S940insAAG

c.2815_2819ins9

1 paper

NM_001291415.2

p.S938_V939insFs

c.2814_2815insTA

1 paper

NM_001291415.2

p.S938Y

c.2813C>A

1 paper

NM_021140.4

p.P891fs

c.2671_2672fs

1 paper

NM_021140.4

p.M885_S888delFs

c.2654_2663del10

1 paper

NM_001291415.2

p.S936*

c.2807C>A

1 paper

NM_001291415.2

p.S936*

c.2807C>G

1 paper

NM_001291415.2

p.S936L

c.2807C>T

1 paper

NM_001291415.2

p.I933M

c.2799C>G

1 paper

NM_021140.4

p.E895*

c.2683G>T