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

6 papers

NM_003482.4

p.Q4217*

c.12649C>T

Surrounding Variants

2 papers

NM_003482.4

p.P4216delFs

c.12647delG

1 paper

NM_003482.4

p.P4216fs

c.12646_12647fs

1 paper

NM_003482.4

p.S4215fs

c.12643_12644fs

1 paper

NM_003482.4

p.S4215fs

c.12643_12644fs

2 papers

NM_003482.4

p.Q4219*

c.12655C>T

1 paper

NM_003482.4

p.S4215G

c.12643A>G

1 paper

NM_003482.4

p.L4214insFs

c.12641dupT

3 papers

NM_003482.4

p.L4214*

c.12641T>G

3 papers

NM_003482.4

p.L4214*

c.12641T>A

1 paper

NM_003482.4

p.L4214fs

c.12640_12641fs

1 paper

NM_003482.4

p.H4213Q

c.12639C>G

1 paper

NM_003482.4

p.H4213Q

c.12639C>A