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.Q3878fs

c.11632_11633fs

Surrounding Variants

1 paper

NM_003482.4

p.Q3878insFs

c.11633dupA

1 paper

NM_003482.4

p.Q3878fs

c.11632_11633fs

2 papers

NM_003482.4

p.Q3878*

c.11632C>T

1 paper

NM_003482.4

p.S3879delFs

c.11635_11636delCT

1 paper

NM_003482.4

p.Q3878_S3879delFs

c.11632_11636del5

2 papers

NM_003482.4

p.L3880M

c.11638C>A

1 paper

NM_003482.4

p.Q3877L

c.11630A>T

1 paper

NM_003482.4

p.Q3877fs

c.11629_11630fs

1 paper

NM_003482.4

p.Q3877*

c.11629C>T

1 paper

NM_003482.4

p.L3876_Q3877insFs

c.11628_11629insA

3 papers

NM_003482.4

p.L3880fs

c.11638_11639fs

3 papers

NM_003482.4

p.M3881fs

c.11641_11642fs