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.L3591F

c.10771C>T

Surrounding Variants

1 paper

NM_003482.4

p.L3591V

c.10771C>G

1 paper

NM_003482.4

p.L3591insFs

c.10772dupT

5 papers

NM_003482.4

p.M3592L

c.10774A>T

5 papers

NM_003482.4

p.M3592L

c.10774A>C

1 paper

NM_003482.4

p.M3592R

c.10775T>G

1 paper

NM_003482.4

p.A3593E

c.10778C>A

1 paper

NM_003482.4

p.A3593delFs

c.10777delC

1 paper

NM_003482.4

p.A3593fs

c.10777_10778fs

1 paper

NM_003482.4

p.H3588Y

c.10762C>T

1 paper

NM_003482.4

p.E3587D

c.10761G>T

1 paper

NM_003482.4

p.E3587D

c.10761G>C

1 paper

NM_003482.4

p.E3594D

c.10782A>T