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.R2520Q

c.7559G>A

Surrounding Variants

1 paper

NM_003482.4

p.R2520fs

c.7558_7559fs

2 papers

NM_003482.4

p.R2520W

c.7558C>T

1 paper

NM_003482.4

p.S2521F

c.7562C>T

1 paper

NM_003482.4

p.V2519_R2520insGC

c.7555_7559ins6

2 papers

NM_003482.4

p.P2515_F2518del4

c.7543_7553del12

1 paper

NM_003482.4

p.S2521_P2522del2

c.7561_7565del6

1 paper

NM_003482.4

p.N2517I

c.7550A>T

3 papers

NM_003482.4

p.N2517S

c.7550A>G

3 papers

NM_003482.4

p.N2517fs

c.7549_7550fs

1 paper

NM_003482.4

p.G2523fs

c.7567_7568fs

1 paper

NM_003482.4

p.P2516insFs

c.7548dupC

1 paper

NM_003482.4

p.P2516delFs

c.7548delG