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.A353delFs

c.1057delG

Surrounding Variants

1 paper

NM_001291415.2

p.A353T

c.1057G>A

1 paper

NM_001291415.2

p.A352delFs

c.1055_1056delCT

1 paper

NM_001291415.2

p.H351R

c.1052A>G

1 paper

NM_001291415.2

p.H351Y

c.1051C>T

1 paper

NM_001291415.2

p.A354V

c.1061C>T

1 paper

NM_001291415.2

p.W355*

c.1064G>A

1 paper

NM_001291415.2

p.G350fs

c.1048_1049fs

1 paper

NM_001291415.2

p.W355*

c.1065G>A

1 paper

NM_001291415.2

p.D357_T360insFs

c.1070_1080dup11

1 paper

NM_001291415.2

p.D357V

c.1070A>T

1 paper

NM_001291415.2

p.D357_L358ins3

c.1071_1072ins9

1 paper

NM_001291415.2

p.L347*

c.1040T>A