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

1 paper

NM_003482.4

p.A4032insFs

c.12095_12096insC

Surrounding Variants

3 papers

NM_003482.4

p.V4033I

c.12097G>A

2 papers

NM_003482.4

p.S4034F

c.12101C>T

1 paper

NM_003482.4

p.P4031L

c.12092C>T

1 paper

NM_003482.4

p.P4031T

c.12091C>A

1 paper

NM_003482.4

p.S4035*

c.12104C>G

1 paper

NM_003482.4

p.S4035*

c.12104C>A

2 papers

NM_003482.4

p.V4029I

c.12085G>A

1 paper

NM_003482.4

p.E4039K

c.12115G>A

1 paper

NM_003482.4

p.N4027D

c.12079A>G

1 paper

NM_003482.4

p.N4027_T4028ins14

c.12079_12083ins42

1 paper

NM_003482.4

p.Q4026H

c.12078A>T

1 paper

NM_003482.4

p.Q4026H

c.12078A>C