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.Y396S

c.1187A>C

Surrounding Variants

1 paper

NM_001291415.2

p.K395E

c.1183A>G

1 paper

NM_001291415.2

p.Q398*

c.1192C>T

1 paper

NM_001291415.2

p.K395_Y396insFs

c.1184_1187dup4

1 paper

NM_001291415.2

p.Q398_A399Splc

c.1194+1G>A

2 papers

NM_001291415.2

p.Q398_A399Splc

c.1194+1G>C

1 paper

NM_001291415.2

p.R393L

c.1178G>T

1 paper

NM_001291415.2

p.Q398_A399Splc

c.1194+2T>G

3 papers

NM_001291415.2

p.R393*

c.1177C>T

1 paper

NM_001291415.2

p.A392A

c.1176A>T

1 paper

NM_001291415.2

p.A391V

c.1172C>T

1 paper

NM_001291415.2

p.A391T

c.1171G>A

1 paper

NM_001291415.2

p.A391fs

c.1171_1172fs