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

5 papers

NM_003482.4

p.Q3941*

c.11821C>T

Surrounding Variants

1 paper

NM_003482.4

p.L3940_Q3941del1

c.11819_11821delGAA

3 papers

NM_003482.4

p.L3940H

c.11819T>A

1 paper

NM_003482.4

p.Q3939_L3940del1

c.11816_11818delGCT

2 papers

NM_003482.4

p.Q3942*

c.11824C>T

1 paper

NM_003482.4

p.Q3939H

c.11817G>T

1 paper

NM_003482.4

p.Q3939H

c.11817G>C

1 paper

NM_003482.4

p.Q3942fs

c.11824_11825fs

4 papers

NM_003482.4

p.Q3943*

c.11827C>T

1 paper

NM_003482.4

p.Q3939*

c.11815C>T

1 paper

NM_003482.4

p.Q3939K

c.11815C>A

1 paper

NM_003482.4

p.Q3938Q

c.11814G>A

2 papers

NM_003482.4

p.Q3932_Q3938del0

c.11796_11813del18