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

4 papers

NM_003482.4

p.Q2083*

c.6247C>T

Surrounding Variants

1 paper

NM_003482.4

p.E2081fs

c.6241_6242fs

1 paper

NM_003482.4

p.E2081insFs

c.6241dupG

1 paper

NM_003482.4

p.E2081*

c.6241G>T

3 papers

NM_003482.4

p.E2081K

c.6241G>A

1 paper

NM_003482.4

p.N2085K

c.6255C>G

1 paper

NM_003482.4

p.A2080insFs

c.6239_6240ins26

1 paper

NM_003482.4

p.N2085K

c.6255C>A

1 paper

NM_003482.4

p.K2086fs

c.6256_6257fs

3 papers

NM_003482.4

p.Q2087*

c.6259C>T

1 paper

NM_003482.4

p.T2088I

c.6263C>T

6 papers

NM_003482.4

p.K2078_Q2079Splc

c.6235-6C>G

3 papers

NM_003482.4

p.K2089*

c.6265A>T