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.K275*

c.823A>T

Surrounding Variants

2 papers

NM_001291415.2

p.K275fs

c.823_824fs

3 papers

NM_001291415.2

p.K275E

c.823A>G

1 paper

NM_001291415.2

p.K275delFs

c.824_825delAG

1 paper

NM_001291415.2

p.K275Fs

c.824_825delinsTFs

1 paper

NM_001291415.2

p.S276_D280del5

c.826_839del15

1 paper

NM_001291415.2

p.L273P

c.818T>C

1 paper

NM_001291415.2

p.L277M

c.829T>A

1 paper

NM_001291415.2

p.L277fs

c.829_830fs

2 papers

NM_001291415.2

p.Y272*

c.816T>A

2 papers

NM_001291415.2

p.Y272*

c.816T>G

1 paper

NM_001291415.2

p.Y272C

c.815A>G

1 paper

NM_001291415.2

p.E278K

c.832G>A