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.S2834*

c.8501C>G

Surrounding Variants

1 paper

NM_003482.4

p.S2834L

c.8501C>T

1 paper

NM_003482.4

p.S2834*

c.8501C>A

1 paper

NM_003482.4

p.M2833L

c.8497A>T

1 paper

NM_003482.4

p.M2833L

c.8497A>C

3 papers

NM_003482.4

p.R2836C

c.8506C>T

1 paper

NM_003482.4

p.A2832fs

c.8494_8495fs

3 papers

NM_003482.4

p.A2832V

c.8495C>T

1 paper

NM_003482.4

p.F2837V

c.8509T>G

1 paper

NM_003482.4

p.F2837S

c.8510T>C

4 papers

NM_003482.4

p.R2830Q

c.8489G>A

1 paper

NM_003482.4

p.A2826_R2830delFs

c.8478_8488del11

30 papers

NM_003482.4

p.R2830*

c.8488C>T