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.S2251fs

c.6751_6752fs

Surrounding Variants

8 papers

NM_003482.4

p.S2251L

c.6752C>T

1 paper

NM_003482.4

p.S2251delFs

c.6751delA

1 paper

NM_003482.4

p.L2252fs

c.6754_6755fs

1 paper

NM_003482.4

p.L2252Q

c.6755T>A

1 paper

NM_003482.4

p.L2252delFs

c.6755delA

1 paper

NM_003482.4

p.R2248L

c.6743G>T

3 papers

NM_003482.4

p.R2248C

c.6742C>T

1 paper

NM_003482.4

p.R2248G

c.6742C>G

1 paper

NM_003482.4

p.L2245_P2247delFs

c.6734_6740del7

1 paper

NM_003482.4

p.N2254T

c.6761A>C

1 paper

NM_003482.4

p.P2247R

c.6740C>G

2 papers

NM_003482.4

p.K2246delFs

c.6738delT