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

3 papers

NM_003482.4

p.R5021Q

c.15062G>A

Surrounding Variants

18 papers

NM_003482.4

p.R5021*

c.15061C>T

1 paper

NM_003482.4

p.L5020delFs

c.15059delA

1 paper

NM_003482.4

p.D5023fs

c.15067_15068fs

1 paper

NM_003482.4

p.A5019V

c.15056C>T

2 papers

NM_003482.4

p.A5019T

c.15055G>A

1 paper

NM_003482.4

p.T5018fs

c.15052_15053fs

1 paper

NM_003482.4

p.T5018I

c.15053C>T

1 paper

NM_003482.4

p.T5018R

c.15053C>G

1 paper

NM_003482.4

p.K5024R

c.15071A>G

1 paper

NM_003482.4

p.G5017insFs

c.15050dupG

1 paper

NM_003482.4

p.G5017S

c.15049G>A

2 papers

NM_003482.4

p.P5026L

c.15077C>T