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.S821fs

c.2461_2462fs

Surrounding Variants

1 paper

NM_001291415.2

p.S821*

c.2462C>A

1 paper

NM_001291415.2

p.S821*

c.2462C>G

1 paper

NM_001291416.2

p.K775T

c.2324A>C

1 paper

NM_001291415.2

p.K820R

c.2459A>G

2 papers

NM_001291415.2

p.P822L

c.2465C>T

1 paper

NM_001291415.2

p.L824_L825del2

c.2470_2474del6

1 paper

NM_001291415.2

p.L824S

c.2471T>C

1 paper

NM_001291415.2

p.G817insFs

c.2449_2450ins4

1 paper

NM_001291415.2

p.H816delFs

c.2447_2448delAT

1 paper

NM_001291415.2

p.P814_S815insFs

c.2442_2443insC

1 paper

NM_001291415.2

p.S827S

c.2481A>T

1 paper

NM_001291415.2

p.P814_G817delFs

c.2442_2449del8