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.Q3970*

c.11908C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q3969L

c.11906A>T

3 papers

NM_003482.4

p.Q3971*

c.11911C>T

1 paper

NM_003482.4

p.Q3969*

c.11905C>T

1 paper

NM_003482.4

p.Q3971E

c.11911C>G

1 paper

NM_003482.4

p.Q3971ins1

c.11911_11912insTTC

2 papers

NM_003482.4

p.F3966_Q3971del0

c.11897_11911del15

1 paper

NM_003482.4

p.Q3968_Q3969del1

c.11904_11906delTGC

1 paper

NM_003482.4

p.Q3972*

c.11914C>T

1 paper

NM_003482.4

p.Q3968*

c.11902C>T

2 papers

NM_003482.4

p.Q3967fs

c.11899_11900fs

7 papers

NM_003482.4

p.Q3967*

c.11899C>T

3 papers

NM_003482.4

p.Q3973*

c.11917C>T