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

1 paper

NM_003482.4

p.S2431fs

c.7291_7292fs

Surrounding Variants

3 papers

NM_003482.4

p.L2430insFs

c.7289dupT

1 paper

NM_003482.4

p.L2430delFs

c.7288_7289delAG

2 papers

NM_003482.4

p.S2431fs

c.7291_7292fs

1 paper

NM_003482.4

p.L2430V

c.7288C>G

3 papers

NM_003482.4

p.S2431_A2432delFs

c.7291_7294del4

1 paper

NM_003482.4

p.E2433*

c.7297G>T

1 paper

NM_003482.4

p.E2433_A2434insCA

c.7297_7301ins6

1 paper

NM_003482.4

p.P2429S

c.7285C>T

1 paper

NM_003482.4

p.R2428fs

c.7282_7283fs

1 paper

NM_003482.4

p.E2433A

c.7298A>C

1 paper

NM_003482.4

p.E2433delFs

c.7297delC

1 paper

NM_003482.4

p.R2428L

c.7283G>T