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.T2441fs

c.7321_7322fs

Surrounding Variants

2 papers

NM_003482.4

p.T2441S

c.7321A>T

1 paper

NM_003482.4

p.V2440V

c.7320T>G

1 paper

NM_003482.4

p.T2441I

c.7322C>T

2 papers

NM_003482.4

p.T2441S

c.7322C>G

3 papers

NM_003482.4

p.V2440I

c.7318G>A

1 paper

NM_003482.4

p.P2439P

c.7317C>T

2 papers

NM_003482.4

p.P2442insFs

c.7325dupC

4 papers

NM_003482.4

p.P2442fs

c.7324_7325fs

2 papers

NM_003482.4

p.P2442delFs

c.7325delG

1 paper

NM_003482.4

p.R2443C

c.7327C>T

1 paper

NM_003482.4

p.R2443fs

c.7327_7328fs

3 papers

NM_003482.4

p.S2438*

c.7313C>G