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

4 papers

NM_003482.4

p.Q4329fs

c.12985_12986fs

Surrounding Variants

7 papers

NM_003482.4

p.Q4329*

c.12985C>T

1 paper

NM_003482.4

p.S4328fs

c.12982_12983fs

1 paper

NM_003482.4

p.S4328fs

c.12982_12983fs

2 papers

NM_003482.4

p.S4327N

c.12980G>A

1 paper

NM_003482.4

p.P4326insFs

c.12978dupC

1 paper

NM_003482.4

p.P4331L

c.12992C>T

2 papers

NM_003482.4

p.T4332fs

c.12994_12995fs

1 paper

NM_003482.4

p.T4332insFs

c.12994_12995insT

1 paper

NM_003482.4

p.E4333*

c.12997G>T

1 paper

NM_003482.4

p.P4324fs

c.12970_12971fs

3 papers

NM_003482.4

p.L4323insFs

c.12969dupA

1 paper

NM_003482.4

p.A4334delFs

c.13000delC