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

2 papers

NM_001291415.2

p.C365fs

c.1093_1094fs

Surrounding Variants

1 paper

NM_001291415.2

p.C365Y

c.1094G>A

1 paper

NM_001291415.2

p.N366fs

c.1096_1097fs

2 papers

NM_001291415.2

p.N366S

c.1097A>G

1 paper

NM_001291415.2

p.Q367*

c.1099C>T

3 papers

NM_001291415.2

p.Y362*

c.1086T>A

2 papers

NM_001291415.2

p.Y362*

c.1086T>G

1 paper

NM_001291415.2

p.P368T

c.1102C>A

1 paper

NM_001291415.2

p.Y362delFs

c.1085_1086delAT

1 paper

NM_001291415.2

p.L361P

c.1082T>C

1 paper

NM_001291415.2

p.L361fs

c.1081_1082fs

1 paper

NM_001291415.2

p.L361insFs

c.1082dupT

1 paper

NM_001291415.2

p.Q369*

c.1105C>T