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.Q2813*

c.8437C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q2811H

c.8433G>T

1 paper

NM_003482.4

p.Q2811fs

c.8431_8432fs

1 paper

NM_003482.4

p.Q2811H

c.8433G>C

3 papers

NM_003482.4

p.Q2811R

c.8432A>G

2 papers

NM_003482.4

p.Q2811fs

c.8431_8432fs

4 papers

NM_003482.4

p.Q2811*

c.8431C>T

3 papers

NM_003482.4

p.Q2815*

c.8443C>T

3 papers

NM_003482.4

p.L2810insFs

c.8430dupA

2 papers

NM_003482.4

p.L2810_Q2811insFs

c.8430_8431insAA

2 papers

NM_003482.4

p.Q2815insFs

c.8443dupC

2 papers

NM_003482.4

p.L2810*

c.8429T>G

2 papers

NM_003482.4

p.L2810*

c.8429T>A