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.V3809delFs

c.11425delC

Surrounding Variants

1 paper

NM_003482.4

p.V3809fs

c.11425_11426fs

2 papers

NM_003482.4

p.V3809fs

c.11425_11426fs

1 paper

NM_003482.4

p.A3808fs

c.11422_11423fs

2 papers

NM_003482.4

p.V3807_L3810delFs

c.11421_11428del8

1 paper

NM_003482.4

p.A3808delFs

c.11422delC

1 paper

NM_003482.4

p.A3808S

c.11422G>T

1 paper

NM_003482.4

p.L3810fs

c.11428_11429fs

3 papers

NM_003482.4

p.Q3811*

c.11431C>T

7 papers

NM_003482.4

p.Q3812*

c.11434C>T

1 paper

NM_003482.4

p.Q3812P

c.11435A>C

1 paper

NM_003482.4

p.Q3812fs

c.11434_11435fs

1 paper

NM_003482.4

p.Q3806*

c.11416C>T