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.P5207delFs

c.15621delG

Surrounding Variants

1 paper

NM_003482.4

p.V5208M

c.15622G>A

1 paper

NM_003482.4

p.V5208fs

c.15622_15623fs

5 papers

NM_003482.4

p.Y5206*

c.15618T>G

4 papers

NM_003482.4

p.Y5206*

c.15618T>A

4 papers

NM_003482.4

p.G5209V

c.15626G>T

1 paper

NM_003482.4

p.Y5206F

c.15617A>T

1 paper

NM_003482.4

p.Y5206C

c.15617A>G

1 paper

NM_003482.4

p.S5201_L5205del5

c.15601_15614del15

1 paper

NM_003482.4

p.L5205fs

c.15613_15614fs

1 paper

NM_003482.4

p.S5201_L5205delFs

c.15602_15614del13

9 papers

NM_003482.4

p.Y5210C

c.15629A>G

3 papers

NM_003482.4

p.Y5210S

c.15629A>C