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.F2244fs

c.6730_6731fs

Surrounding Variants

1 paper

NM_003482.4

p.P2243insFs

c.6729dupA

8 papers

NM_003482.4

p.L2245V

c.6733C>G

1 paper

NM_003482.4

p.L2245fs

c.6733_6734fs

1 paper

NM_003482.4

p.D2242A

c.6725A>C

1 paper

NM_003482.4

p.D2242H

c.6724G>C

1 paper

NM_003482.4

p.K2246*

c.6736A>T

1 paper

NM_003482.4

p.K2246fs

c.6736_6737fs

1 paper

NM_003482.4

p.P2241P

c.6723T>A

1 paper

NM_003482.4

p.P2241S

c.6721C>T

2 papers

NM_003482.4

p.K2246delFs

c.6738delT

1 paper

NM_003482.4

p.P2247R

c.6740C>G

1 paper

NM_003482.4

p.L2245_P2247delFs

c.6734_6740del7