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.Q3725ins2

c.11173_11174ins6

Surrounding Variants

3 papers

NM_003482.4

p.Q3725*

c.11173C>T

2 papers

NM_003482.4

p.L3723_Q3725ins1

c.11168_11173dup6

1 paper

NM_003482.4

p.Q3724L

c.11171A>T

2 papers

NM_003482.4

p.Q3724*

c.11170C>T

5 papers

NM_003482.4

p.R3727C

c.11179C>T

3 papers

NM_003482.4

p.R3727H

c.11180G>A

1 paper

NM_003482.4

p.M3728V

c.11182A>G

1 paper

NM_003482.4

p.Q3729*

c.11185C>T

1 paper

NM_003482.4

p.L3721M

c.11161C>A

5 papers

NM_003482.4

p.Q3720*

c.11158C>T

1 paper

NM_003482.4

p.R3719insFs

c.11157dupG

1 paper

NM_003482.4

p.R3719T

c.11156G>C