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

2 papers

NM_003482.4

p.L4226fs

c.12676_12677fs

Surrounding Variants

1 paper

NM_003482.4

p.L4225V

c.12673C>G

1 paper

NM_003482.4

p.M4227V

c.12679A>G

1 paper

NM_003482.4

p.L4226delFs

c.12677_12678delGA

2 papers

NM_003482.4

p.A4224T

c.12670G>A

1 paper

NM_003482.4

p.Q4221_L4222del2

c.12661_12665del6

1 paper

NM_003482.4

p.Q4219_L4222del4

c.12655_12665del12

1 paper

NM_003482.4

p.Q4228*

c.12682C>T

1 paper

NM_003482.4

p.Q4228E

c.12682C>G

1 paper

NM_003482.4

p.Q4223R

c.12668A>G

7 papers

NM_003482.4

p.Q4223*

c.12667C>T

2 papers

NM_003482.4

p.R4229W

c.12685C>T

1 paper

NM_003482.4

p.R4229Q

c.12686G>A