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.A344P

c.1030G>C

Surrounding Variants

1 paper

NM_001291415.2

p.A344D

c.1031C>A

1 paper

NM_001291415.2

p.V345delins

c.1033_1034delinsTG

1 paper

NM_001291415.2

p.I342N

c.1025T>A

1 paper

NM_001291415.2

p.I342V

c.1024A>G

1 paper

NM_001291415.2

p.I342fs

c.1024_1025fs

1 paper

NM_001291415.2

p.Q346*

c.1036C>T

1 paper

NM_001291415.2

p.Q346H

c.1038A>T

1 paper

NM_001291415.2

p.L347_H349del3

c.1039_1046del9

1 paper

NM_001291415.2

p.L347*

c.1040T>A

1 paper

NM_001291415.2

p.A340fs

c.1018_1019fs

1 paper

NM_001291415.2

p.A340_Y341delFs

c.1018_1021del4

2 papers

NM_001291415.2

p.Q339*

c.1015C>T