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.P3668A

c.11002C>G

Surrounding Variants

1 paper

NM_003482.4

p.P3668_G3669insG

c.11002_11006ins3

1 paper

NM_003482.4

p.P3668L

c.11003C>T

1 paper

NM_003482.4

p.P3668H

c.11003C>A

1 paper

NM_003482.4

p.P3668fs

c.11002_11003fs

1 paper

NM_003482.4

p.G3669_G3670insC

c.11005_11009ins3

3 papers

NM_003482.4

p.Q3667*

c.10999C>T

9 papers

NM_003482.4

p.P3665A

c.10993C>G

1 paper

NM_003482.4

p.P3671A

c.11011C>G

2 papers

NM_003482.4

p.F3672fs

c.11014_11015fs

1 paper

NM_003482.4

p.A3663T

c.10987G>A

2 papers

NM_003482.4

p.L3673delFs

c.11017delG

2 papers

NM_003482.4

p.N3674fs

c.11020_11021fs