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

2 papers

NM_003482.4

p.Q3924*

c.11770C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q3924fs

c.11770_11771fs

1 paper

NM_003482.4

p.Q3923delFs

c.11769delT

2 papers

NM_003482.4

p.Q3924insFs

c.11770dupC

1 paper

NM_003482.4

p.Q3923fs

c.11767_11768fs

1 paper

NM_003482.4

p.Q3924fs

c.11770_11771fs

1 paper

NM_003482.4

p.Q3925*

c.11773C>T

4 papers

NM_003482.4

p.Q3922*

c.11764C>T

2 papers

NM_003482.4

p.L3926H

c.11777T>A

3 papers

NM_003482.4

p.Q3919_L3920del2

c.11755_11759del6

2 papers

NM_003482.4

p.Q3927*

c.11779C>T

1 paper

NM_003482.4

p.Q3921*

c.11761C>T

2 papers

NM_003482.4

p.L3920Q

c.11759T>A