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.G174V

c.521G>T

Surrounding Variants

2 papers

NM_001291415.2

p.G174R

c.520G>A

2 papers

NM_001291415.2

p.G174R

c.520G>C

1 paper

NM_001291415.2

p.L175I

c.523C>A

1 paper

NM_001291415.2

p.L175P

c.524T>C

1 paper

NM_001291415.2

p.L173fs

c.517_518fs

1 paper

NM_001291415.2

p.L173F

c.517C>T

2 papers

NM_001291415.2

p.M176fs

c.526_527fs

1 paper

NM_001291415.2

p.R172R

c.516A>T

1 paper

NM_001291415.2

p.L173delFs

c.517delC

17 papers

NM_001291415.2

p.R172*

c.514C>T

1 paper

NM_001291415.2

p.F177_V179del0

c.531_536del6

2 papers

NM_001291415.2

p.L171V

c.511T>G