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.H720N

c.2158C>A

Surrounding Variants

1 paper

NM_001291415.2

p.H720Y

c.2158C>T

1 paper

NM_001291415.2

p.Q719delFs

c.2156delA

1 paper

NM_001291415.2

p.Q722K

c.2164C>A

1 paper

NM_001291415.2

p.S718P

c.2152T>C

1 paper

NM_021140.4

p.P665fs

c.1993_1994fs

1 paper

NM_001291415.2

p.A723P

c.2167G>C

1 paper

NM_001291415.2

p.P717insFs

c.2150dupC

1 paper

NM_001291415.2

p.A724_G725delFs

c.2172_2173delTG

2 papers

NM_001291415.2

p.S714C

c.2141C>G

10 papers

NM_001291415.2

p.S726Y

c.2177C>A

NM_021140.4

p.S674Y

c.2021C>A

1 paper

NM_001291415.2

p.L712_S713insAAT

c.2134_2138ins9

1 paper

NM_001291415.2

p.N730Y

c.2188A>T