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

4 papers

NM_003482.4

p.Q4315*

c.12943C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q4315E

c.12943C>G

2 papers

NM_003482.4

p.Q4315fs

c.12943_12944fs

1 paper

NM_003482.4

p.E4316*

c.12946G>T

2 papers

NM_003482.4

p.Q4315delFs

c.12944_12945delTT

1 paper

NM_003482.4

p.P4314S

c.12940C>T

1 paper

NM_003482.4

p.S4313N

c.12938G>A

1 paper

NM_003482.4

p.L4302_S4312del11

c.12904_12935del33

2 papers

NM_003482.4

p.S4312F

c.12935C>T

1 paper

NM_003482.4

p.K4318E

c.12952A>G

4 papers

NM_003482.4

p.R4319*

c.12955A>T

1 paper

NM_003482.4

p.R4319I

c.12956G>T

1 paper

NM_003482.4

p.R4319fs

c.12955_12956fs