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

27 papers

NM_003482.4

p.R5027*

c.15079C>T

Surrounding Variants

2 papers

NM_003482.4

p.R5027L

c.15080G>T

2 papers

NM_003482.4

p.R5027Q

c.15080G>A

1 paper

NM_003482.4

p.P5022_V5025del4

c.15064_15074del12

2 papers

NM_003482.4

p.P5026L

c.15077C>T

1 paper

NM_003482.4

p.V5025_R5027insFs

c.15073_15080dup8

1 paper

NM_003482.4

p.R5027fs

c.15079_15080fs

1 paper

NM_003482.4

p.R5027delFs

c.15080delC

1 paper

NM_003482.4

p.D5028Y

c.15082G>T

3 papers

NM_003482.4

p.D5028E

c.15084C>G

2 papers

NM_003482.4

p.D5028E

c.15084C>A

1 paper

NM_003482.4

p.M5029L

c.15085A>T

1 paper

NM_003482.4

p.M5029L

c.15085A>C