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.V2287A

c.6860T>C

Surrounding Variants

1 paper

NM_003482.4

p.E2286_V2287del2

c.6856_6860del6

7 papers

NM_003482.4

p.K2288N

c.6864G>T

7 papers

NM_003482.4

p.K2288N

c.6864G>C

1 paper

NM_003482.4

p.E2290Q

c.6868G>C

1 paper

NM_003482.4

p.E2290fs

c.6868_6869fs

1 paper

NM_003482.4

p.E2290delFs

c.6868delC

2 papers

NM_003482.4

p.A2284S

c.6850G>T

1 paper

NM_003482.4

p.E2291*

c.6871G>T

1 paper

NM_003482.4

p.K2283M

c.6848A>T

2 papers

NM_003482.4

p.R2282fs

c.6844_6845fs

3 papers

NM_003482.4

p.R2282delFs

c.6844delG

1 paper

NM_003482.4

p.P2277_S2281del5

c.6829_6842del15