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.Q2800fs

c.8398_8399fs

Surrounding Variants

17 papers

NM_003482.4

p.R2801*

c.8401C>T

7 papers

NM_003482.4

p.Q2800*

c.8398C>T

1 paper

NM_003482.4

p.Y2799*

c.8397T>G

1 paper

NM_003482.4

p.Y2799*

c.8397T>A

1 paper

NM_003482.4

p.F2798_Y2799delFs

c.8394_8395delAG

1 paper

NM_003482.4

p.F2798L

c.8394C>G

1 paper

NM_003482.4

p.F2798fs

c.8392_8393fs

1 paper

NM_003482.4

p.F2798L

c.8394C>A

1 paper

NM_003482.4

p.F2798L

c.8392T>C

1 paper

NM_003482.4

p.F2798fs

c.8392_8393fs

1 paper

NM_003482.4

p.P2803P

c.8409C>A

1 paper

NM_003482.4

p.Y2804H

c.8410T>C