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

5 papers

NM_001291415.2

p.Q147*

c.439C>T

Surrounding Variants

1 paper

NM_001291415.2

p.Q147fs

c.439_440fs

1 paper

NM_001291415.2

p.W148*

c.443G>A

1 paper

NM_001291415.2

p.A145G

c.434C>G

3 papers

NM_001291415.2

p.W148Splc

c.443+1G>A

1 paper

NM_001291415.2

p.W148Splc

c.443+1G>T

1 paper

NM_001291415.2

p.W148Splc

c.443+2T>C

2 papers

NM_001291415.2

p.N144S

c.431A>G

1 paper

NM_001291415.2

p.N144fs

c.430_431fs

2 papers

NM_001291415.2

p.W148Splc

c.443+5G>C

1 paper

NM_001291415.2

p.Y143*

c.429T>A

1 paper

NM_001291415.2

p.Y143*

c.429T>G

1 paper

NM_001291415.2

p.Y143C

c.428A>G