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.G2637fs

c.7909_7910fs

Surrounding Variants

2 papers

NM_003482.4

p.S2636*

c.7907C>G

2 papers

NM_003482.4

p.S2636*

c.7907C>A

4 papers

NM_003482.4

p.R2635Q

c.7904G>A

20 papers

NM_003482.4

p.R2635*

c.7903C>T

2 papers

NM_003482.4

p.P2641S

c.7921C>T

1 paper

NM_003482.4

p.Q2634*

c.7900C>T

1 paper

NM_003482.4

p.V2642I

c.7924G>A

3 papers

NM_003482.4

p.S2633*

c.7898C>G

3 papers

NM_003482.4

p.S2633*

c.7898C>A

1 paper

NM_003482.4

p.E2643K

c.7927G>A

1 paper

NM_003482.4

p.E2643fs

c.7927_7928fs

1 paper

NM_003482.4

p.E2643_K2644ins2

c.7929_7930ins6