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.R93delFs

c.279delC

Surrounding Variants

1 paper

NM_003482.4

p.C94_P95insFs

c.282_283insCG

1 paper

NM_003482.4

p.E86_C94del0

c.258_281del24

1 paper

NM_003482.4

p.R93Q

c.278G>A

1 paper

NM_003482.4

p.R93fs

c.277_278fs

3 papers

NM_003482.4

p.R93W

c.277C>T

2 papers

NM_003482.4

p.P95S

c.283C>T

1 paper

NM_003482.4

p.R93R

c.277C>A

1 paper

NM_003482.4

p.P95fs

c.283_284fs

1 paper

NM_003482.4

p.P92_R93insT

c.274_278ins3

1 paper

NM_003482.4

p.W91delFs

c.273delC

2 papers

NM_003482.4

p.W91*

c.273G>A

1 paper

NM_003482.4

p.D90_W91delFs

c.269_272del4