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.Q3954H

c.11862G>C

Surrounding Variants

1 paper

NM_003482.4

p.Q3954H

c.11862G>T

2 papers

NM_003482.4

p.L3948_Q3954del0

c.11843_11860del18

2 papers

NM_003482.4

p.L3955Q

c.11864T>A

1 paper

NM_003482.4

p.Q3953P

c.11858A>C

1 paper

NM_003482.4

p.Q3953insFs

c.11858_11859insC

1 paper

NM_003482.4

p.Q3953*

c.11857C>T

1 paper

NM_003482.4

p.Q3952fs

c.11854_11855fs

1 paper

NM_003482.4

p.Q3957fs

c.11869_11870fs

3 papers

NM_003482.4

p.Q3957*

c.11869C>T

1 paper

NM_003482.4

p.Q3956insFs

c.11867_11868dupAA

1 paper

NM_003482.4

p.Q3952insFs

c.11854dupC

1 paper

NM_003482.4

p.Q3957Q

c.11871G>A