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.K4980*

c.14938A>T

Surrounding Variants

1 paper

NM_003482.4

p.K4980N

c.14940G>T

1 paper

NM_003482.4

p.K4980N

c.14940G>C

1 paper

NM_003482.4

p.K4981*

c.14941A>T

2 papers

NM_003482.4

p.R4978H

c.14933G>A

2 papers

NM_003482.4

p.R4978C

c.14932C>T

7 papers

NM_003482.4

p.W4982*

c.14945G>A

1 paper

NM_003482.4

p.W4982C

c.14946G>T

1 paper

NM_003482.4

p.W4982C

c.14946G>C

8 papers

NM_003482.4

p.W4982*

c.14946G>A

1 paper

NM_003482.4

p.P4977S

c.14929C>T

1 paper

NM_003482.4

p.P4977_R4978insG

c.14929_14933ins3

1 paper

NM_003482.4

p.W4982insFs

c.14946dupG