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.E5425D

c.16275G>C

Surrounding Variants

1 paper

NM_003482.4

p.E5425D

c.16275G>T

14 papers

NM_003482.4

p.E5425K

c.16273G>A

1 paper

NM_003482.4

p.Y5426*

c.16278C>G

1 paper

NM_003482.4

p.Y5426*

c.16278C>A

1 paper

NM_003482.4

p.V5423fs

c.16267_16268fs

5 papers

NM_003482.4

p.V5423F

c.16267G>T

6 papers

NM_003482.4

p.G5428D

c.16283G>A

1 paper

NM_003482.4

p.M5422T

c.16265T>C

2 papers

NM_003482.4

p.T5429A

c.16285A>G

1 paper

NM_003482.4

p.T5421T

c.16263A>G

1 paper

NM_003482.4

p.I5430M

c.16290C>G

1 paper

NM_003482.4

p.I5431V

c.16291A>G