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.F5152F

c.15456C>T

Surrounding Variants

1 paper

NM_003482.4

p.F5152L

c.15456C>G

1 paper

NM_003482.4

p.F5152L

c.15456C>A

2 papers

NM_003482.4

p.R5153W

c.15457C>T

1 paper

NM_003482.4

p.F5152L

c.15454T>C

6 papers

NM_003482.4

p.R5153Q

c.15458G>A

1 paper

NM_003482.4

p.R5153delFs

c.15457delG

2 papers

NM_003482.4

p.R5153fs

c.15457_15458fs

1 paper

NM_003482.4

p.V5151delFs

c.15452delA

3 papers

NM_003482.4

p.R5154W

c.15460C>T

26 papers

NM_003482.4

p.R5154Q

c.15461G>A

1 paper

NM_003482.4

p.V5151fs

c.15451_15452fs

1 paper

NM_003482.4

p.V5155F

c.15463G>T