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.S4068*

c.12203C>A

Surrounding Variants

1 paper

NM_003482.4

p.S4068*

c.12203C>G

2 papers

NM_003482.4

p.P4067S

c.12199C>T

3 papers

NM_003482.4

p.S4070fs

c.12208_12209fs

1 paper

NM_003482.4

p.S4068_L4069delFs

c.12204_12207del4

1 paper

NM_003482.4

p.S4070delFs

c.12208delA

1 paper

NM_003482.4

p.K4066R

c.12197A>G

2 papers

NM_003482.4

p.S4070fs

c.12208_12209fs

1 paper

NM_003482.4

p.S4070delFs

c.12209_12210delAG

1 paper

NM_003482.4

p.D4072N

c.12214G>A

1 paper

NM_003482.4

p.S4073L

c.12218C>T

4 papers

NM_003482.4

p.S4073*

c.12218C>G

4 papers

NM_003482.4

p.S4073*

c.12218C>A