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.L376*

c.1127T>A

Surrounding Variants

1 paper

NM_001291415.2

p.L376*

c.1127T>G

1 paper

NM_001291415.2

p.L376F

c.1128A>C

1 paper

NM_001291415.2

p.L376F

c.1128A>T

4 papers

NM_001291415.2

p.Y375C

c.1124A>G

1 paper

NM_001291415.2

p.Y375delFs

c.1123delT

2 papers

NM_001291415.2

p.R380*

c.1138A>T

1 paper

NM_001291415.2

p.R380delFs

c.1139delG

1 paper

NM_001291415.2

p.R380fs

c.1138_1139fs

1 paper

NM_001291415.2

p.K373delFs

c.1119delA

1 paper

NM_001291415.2

p.I372fs

c.1114_1115fs

1 paper

NM_001291415.2

p.Y375_A378insFs

c.1123_1133dup11

1 paper

NM_001291415.2

p.S381insFs

c.1142_1143ins4