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.Q4405*

c.13213C>T

Surrounding Variants

1 paper

NM_003482.4

p.V4406L

c.13216G>T

1 paper

NM_003482.4

p.V4406L

c.13216G>C

3 papers

NM_003482.4

p.N4403fs

c.13207_13208fs

4 papers

NM_003482.4

p.N4403delFs

c.13207_13208delTT

1 paper

NM_003482.4

p.N4403fs

c.13207_13208fs

1 paper

NM_003482.4

p.V4407A

c.13220T>C

1 paper

NM_003482.4

p.E4409*

c.13225G>T

3 papers

NM_003482.4

p.Q4401*

c.13201C>T

1 paper

NM_003482.4

p.D4400E

c.13200C>G

1 paper

NM_003482.4

p.D4400E

c.13200C>A

2 papers

NM_003482.4

p.A4410T

c.13228G>A

1 paper

NM_003482.4

p.D4400N

c.13198G>A