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

3 papers

NM_003482.4

p.R2105C

c.6313C>T

Surrounding Variants

1 paper

NM_003482.4

p.R2105L

c.6314G>T

2 papers

NM_003482.4

p.R2105H

c.6314G>A

1 paper

NM_003482.4

p.P2107A

c.6319C>G

2 papers

NM_003482.4

p.P2107T

c.6319C>A

4 papers

NM_003482.4

p.P2108L

c.6323C>T

1 paper

NM_003482.4

p.A2101fs

c.6301_6302fs

3 papers

NM_003482.4

p.P2108insFs

c.6323dupC

1 paper

NM_003482.4

p.P2108fs

c.6322_6323fs

1 paper

NM_003482.4

p.A2101V

c.6302C>T

1 paper

NM_003482.4

p.R2099_P2100insFs

c.6297_6300dup4

4 papers

NM_003482.4

p.Q2109*

c.6325C>T

1 paper

NM_003482.4

p.Q2109K

c.6325C>A