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.V3787insFs

c.11359dupG

Surrounding Variants

1 paper

NM_003482.4

p.V3787fs

c.11359_11360fs

2 papers

NM_003482.4

p.Q3788*

c.11362C>T

1 paper

NM_003482.4

p.L3786P

c.11357T>C

1 paper

NM_003482.4

p.Q3788P

c.11363A>C

1 paper

NM_003482.4

p.Q3789*

c.11365C>T

1 paper

NM_003482.4

p.V3787_Q3789delFs

c.11361_11365del5

1 paper

NM_003482.4

p.G3784C

c.11350G>T

1 paper

NM_003482.4

p.Q3789_L3790del2

c.11365_11369del6

1 paper

NM_003482.4

p.Q3783*

c.11347C>T

1 paper

NM_003482.4

p.P3792fs

c.11374_11375fs

2 papers

NM_003482.4

p.P3792fs

c.11374_11375fs

2 papers

NM_003482.4

p.P3792delFs

c.11375delG