Varaico: Literature-Extracted Genetic Variants

KMT2D

2,563 papers

RefSeq Summary

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been sh...

Pfam Domains

zf-HC5HC2Haa 139–218UCSCPHD-like zinc-binding domain

PHDaa 229–273UCSCPHD-finger

PHDaa 276–320UCSCPHD-finger

PHDaa 1380–1427UCSCPHD-finger

PHDaa 1430–1474UCSCPHD-finger

zf-HC5HC2H_2aa 5030–5144UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

lysine methyltransferase 2D

HGNC Previous Symbols

TNRC21; MLL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_003482.4

p.Q3945*

c.11833C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q3944P

c.11831A>C

2 papers

NM_003482.4

p.Q3943Q

c.11829G>A

1 paper

NM_003482.4

p.Q3946L

c.11837A>T

2 papers

NM_003482.4

p.L3940_Q3946ins2

c.11819_11836dup18

1 paper

NM_003482.4

p.Q3947fs

c.11839_11840fs

4 papers

NM_003482.4

p.Q3943*

c.11827C>T

1 paper

NM_003482.4

p.Q3942fs

c.11824_11825fs

1 paper

NM_003482.4

p.Q3946_Q3947ins0

c.11838_11840dupACA

1 paper

NM_003482.4

p.Q3947delFs

c.11840delT

1 paper

NM_003482.4

p.L3948fs

c.11842_11843fs

2 papers

NM_003482.4

p.Q3942*

c.11824C>T

1 paper

NM_003482.4

p.L3948V

c.11842C>G