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.S2927*

c.8780C>A

Surrounding Variants

4 papers

NM_003482.4

p.S2927*

c.8780C>G

1 paper

NM_003482.4

p.G2928C

c.8782G>T

1 paper

NM_003482.4

p.L2929I

c.8785C>A

19 papers

NM_003482.4

p.A2925V

c.8774C>T

2 papers

NM_003482.4

p.P2930S

c.8788C>T

1 paper

NM_003482.4

p.G2923delFs

c.8768delC

1 paper

NM_003482.4

p.P2931fs

c.8791_8792fs

1 paper

NM_003482.4

p.G2923C

c.8767G>T

1 paper

NM_003482.4

p.G2923R

c.8767G>C

1 paper

NM_003482.4

p.G2923fs

c.8767_8768fs

1 paper

NM_003482.4

p.P2931delFs

c.8792delG

1 paper

NM_003482.4

p.R2922L

c.8765G>T