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.P2841L

c.8522C>T

Surrounding Variants

3 papers

NM_003482.4

p.P2841T

c.8521C>A

1 paper

NM_003482.4

p.P2841insFs

c.8522_8523dupCT

1 paper

NM_003482.4

p.G2842fs

c.8524_8525fs

1 paper

NM_003482.4

p.S2839L

c.8516C>T

2 papers

NM_003482.4

p.S2839*

c.8516C>G

3 papers

NM_003482.4

p.S2839*

c.8516C>A

1 paper

NM_003482.4

p.P2838fs

c.8512_8513fs

1 paper

NM_003482.4

p.P2838delFs

c.8513delG

1 paper

NM_003482.4

p.F2837S

c.8510T>C

1 paper

NM_003482.4

p.F2837V

c.8509T>G

3 papers

NM_003482.4

p.R2836C

c.8506C>T

3 papers

NM_003482.4

p.R2847C

c.8539C>T