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.Q3860*

c.11578C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q3860Q

c.11580G>A

1 paper

NM_003482.4

p.Q3861L

c.11582A>T

1 paper

NM_003482.4

p.Q3861ins1

c.11582_11583insGCA

1 paper

NM_003482.4

p.Q3861fs

c.11581_11582fs

2 papers

NM_003482.4

p.Q3860_Q3861ins0

c.11580_11582dupGCA

11 papers

NM_003482.4

p.Q3860_Q3861del1

c.11580_11582delTGC

1 paper

NM_003482.4

p.Q3857L

c.11570A>T

8 papers

NM_003482.4

p.Q3860_Q3861del2

c.11578_11582del6

1 paper

NM_003482.4

p.Q3857*

c.11569C>T

1 paper

NM_003482.4

p.Q3856H

c.11568G>T

1 paper

NM_003482.4

p.Q3856H

c.11568G>C

1 paper

NM_003482.4

p.Q3863P

c.11588A>C