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.K768N

c.2304A>C

Surrounding Variants

1 paper

NM_001291415.2

p.K768N

c.2304A>T

1 paper

NM_001291415.2

p.K768R

c.2303A>G

1 paper

NM_021140.4

p.E717insFs

c.2150dupA

1 paper

NM_001291415.2

p.S770_K771del2

c.2308_2312del6

2 papers

NM_001291415.2

p.K768E

c.2302A>G

1 paper

NM_001291415.2

p.S773*

c.2318C>A

1 paper

NM_001291415.2

p.S773*

c.2318C>G

1 paper

NM_001291415.2

p.N775insFs

c.2324_2325ins8

1 paper

NM_001291415.2

p.Q762E

c.2284C>G

1 paper

NM_021140.4

p.I724_L725delFs

c.2172_2173delAT

1 paper

NM_001291415.2

p.I776T

c.2327T>C

1 paper

NM_021140.4

p.L725fs

c.2173_2174fs