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.P4320A

c.12958C>G

Surrounding Variants

1 paper

NM_003482.4

p.R4319delFs

c.12956_12957delTC

1 paper

NM_003482.4

p.R4319fs

c.12955_12956fs

1 paper

NM_003482.4

p.R4319I

c.12956G>T

4 papers

NM_003482.4

p.R4319*

c.12955A>T

1 paper

NM_003482.4

p.S4321L

c.12962C>T

3 papers

NM_003482.4

p.S4321*

c.12962C>G

3 papers

NM_003482.4

p.S4321*

c.12962C>A

4 papers

NM_003482.4

p.Q4322*

c.12964C>T

1 paper

NM_003482.4

p.K4318E

c.12952A>G

1 paper

NM_003482.4

p.Q4322fs

c.12964_12965fs

2 papers

NM_003482.4

p.Q4322delFs

c.12966delT

1 paper

NM_003482.4

p.P4324fs

c.12970_12971fs