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.H804Y

c.2410C>T

Surrounding Variants

1 paper

NM_021140.4

p.Q753_A756delFs

c.2257_2266del10

1 paper

NM_001291415.2

p.Q805*

c.2413C>T

1 paper

NM_021140.4

p.T755fs

c.2263_2264fs

1 paper

NM_001291415.2

p.D809A

c.2426A>C

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.S795R

c.2385T>A

1 paper

NM_001291415.2

p.S795R

c.2385T>G

1 paper

NM_001291415.2

p.S795R

c.2383A>C

1 paper

NM_021140.4

p.S743fs

c.2227_2228fs

1 paper

NM_021140.4

p.S761_P770del0

c.2283_2309del27

2 papers

NM_021140.4

p.A742_S743insFs

c.2226_2227dupCA