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

3 papers

NM_003482.4

p.R2789Splc

c.8366+1G>T

Surrounding Variants

2 papers

NM_003482.4

p.R2789Splc

c.8366+1G>A

2 papers

NM_003482.4

p.R2789Splc

c.8366+2T>G

2 papers

NM_003482.4

p.R2789Splc

c.8366+2T>C

4 papers

NM_003482.4

p.R2789Q

c.8366G>A

2 papers

NM_003482.4

p.S2788delFs

c.8364delG

1 paper

NM_003482.4

p.R2789fs

c.8365_8366fs

2 papers

NM_003482.4

p.R2789W

c.8365C>T

2 papers

NM_003482.4

p.R2789Splc

c.8366+5G>C

1 paper

NM_003482.4

p.R2789Splc

c.8366+6G>T

1 paper

NM_003482.4

p.N2787S

c.8360A>G

2 papers

NM_003482.4

p.M2784fs

c.8350_8351fs

2 papers

NM_003482.4

p.M2784delFs

c.8350_8351delAT