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.H2560fs

c.7678_7679fs

Surrounding Variants

1 paper

NM_003482.4

p.H2560delFs

c.7678delG

2 papers

NM_003482.4

p.P2558_P2559del2

c.7672_7676del6

1 paper

NM_003482.4

p.N2563H

c.7687A>C

22 papers

NM_003482.4

p.P2557L

c.7670C>T

3 papers

NM_003482.4

p.F2566L

c.7696T>C

2 papers

NM_003482.4

p.G2555S

c.7663G>A

3 papers

NM_003482.4

p.F2566L

c.7698T>G

3 papers

NM_003482.4

p.F2566L

c.7698T>A

1 paper

NM_003482.4

p.P2554H

c.7661C>A

1 paper

NM_003482.4

p.P2554_G2555ins12

c.7660_7664ins36

1 paper

NM_003482.4

p.P2539_V2551del13

c.7615_7652del39

1 paper

NM_003482.4

p.Q2553fs

c.7657_7658fs