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.P2145S

c.6433C>T

Surrounding Variants

1 paper

NM_003482.4

p.P2145L

c.6434C>T

2 papers

NM_003482.4

p.P2146S

c.6436C>T

8 papers

NM_003482.4

p.P2146L

c.6437C>T

2 papers

NM_003482.4

p.A2147V

c.6440C>T

2 papers

NM_003482.4

p.F2142V

c.6424T>G

1 paper

NM_003482.4

p.S2149P

c.6445T>C

1 paper

NM_003482.4

p.S2149T

c.6445T>A

2 papers

NM_003482.4

p.G2141W

c.6421G>T

1 paper

NM_003482.4

p.G2141R

c.6421G>C

1 paper

NM_003482.4

p.G2141R

c.6421G>A

1 paper

NM_003482.4

p.T2137_D2140delFs

c.6411_6420del10

1 paper

NM_003482.4

p.S2149L

c.6446C>T