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.Q4232L

c.12695A>T

Surrounding Variants

1 paper

NM_003482.4

p.Q4232H

c.12696G>T

1 paper

NM_003482.4

p.Q4232H

c.12696G>C

2 papers

NM_003482.4

p.Q4232*

c.12694C>T

8 papers

NM_003482.4

p.Q4233*

c.12697C>T

1 paper

NM_003482.4

p.Q4233ins2

c.12698_12699ins6

2 papers

NM_003482.4

p.S4234fs

c.12700_12701fs

5 papers

NM_003482.4

p.S4234delFs

c.12700_12701delCT

10 papers

NM_003482.4

p.Q4230*

c.12688C>T

3 papers

NM_003482.4

p.Q4235fs

c.12703_12704fs

8 papers

NM_003482.4

p.Q4235*

c.12703C>T

1 paper

NM_003482.4

p.R4229Q

c.12686G>A

2 papers

NM_003482.4

p.Q4235fs

c.12703_12704fs