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.R1100_E1101Splc

c.3301-1G>C

Surrounding Variants

1 paper

NM_001291415.2

p.E1101_H1109del0

c.3301_3327del27

1 paper

NM_001291415.2

p.R1100_E1101Splc

c.3301-2A>G

1 paper

NM_001291415.2

p.E1101K

c.3301G>A

1 paper

NM_021140.4

p.E1049D

c.3147A>C

1 paper

NM_021140.4

p.E1049D

c.3147A>T

8 papers

NM_001291415.2

p.E1102K

c.3304G>A

1 paper

NM_001291415.2

p.E1102Q

c.3304G>C

1 paper

NM_001291415.2

p.E1102D

c.3306A>C

1 paper

NM_001291415.2

p.E1102D

c.3306A>T

1 paper

NM_001291415.2

p.K1105Q

c.3313A>C

1 paper

NM_001291415.2

p.R1106insFs

c.3318dupA

1 paper

NM_001291415.2

p.S1107_K1110delFs

c.3319_3329del11