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.Q3600*

c.10798C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q3600fs

c.10798_10799fs

1 paper

NM_003482.4

p.Q3599*

c.10795C>T

2 papers

NM_003482.4

p.Q3601K

c.10801C>A

2 papers

NM_003482.4

p.Q3601delFs

c.10801delG

3 papers

NM_003482.4

p.Q3601fs

c.10801_10802fs

2 papers

NM_003482.4

p.Q3602*

c.10804C>T

1 paper

NM_003482.4

p.K3598E

c.10792A>G

1 paper

NM_003482.4

p.R3596_N3597del2

c.10786_10790del6

1 paper

NM_003482.4

p.Q3602P

c.10805A>C

1 paper

NM_003482.4

p.Q3603*

c.10807C>T

1 paper

NM_003482.4

p.R3596fs

c.10786_10787fs

1 paper

NM_003482.4

p.Q3603P

c.10808A>C