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.P790S

c.2368C>T

Surrounding Variants

1 paper

NM_001291415.2

p.P790_N791insT

c.2368_2372ins3

1 paper

NM_021140.4

p.N739insFs

c.2215dupA

1 paper

NM_001291415.2

p.N791Y

c.2371A>T

1 paper

NM_001291415.2

p.G787E

c.2360G>A

2 papers

NM_021140.4

p.A742_S743insFs

c.2226_2227dupCA

1 paper

NM_001291415.2

p.S795R

c.2383A>C

1 paper

NM_021140.4

p.S743fs

c.2227_2228fs

1 paper

NM_001291415.2

p.S795R

c.2385T>A

1 paper

NM_001291415.2

p.S795R

c.2385T>G

1 paper

NM_021140.4

p.E745D

c.2235G>C

1 paper

NM_021140.4

p.E745D

c.2235G>T

1 paper

NM_001291415.2

p.E781K

c.2341G>A