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.Q3737R

c.11210A>G

Surrounding Variants

3 papers

NM_003482.4

p.Q3737*

c.11209C>T

1 paper

NM_003482.4

p.Q3738R

c.11213A>G

2 papers

NM_003482.4

p.Q3738fs

c.11212_11213fs

3 papers

NM_003482.4

p.Q3736*

c.11206C>T

1 paper

NM_003482.4

p.Q3738delFs

c.11214delC

1 paper

NM_003482.4

p.Q3739L

c.11216A>T

6 papers

NM_003482.4

p.Q3735*

c.11203C>T

1 paper

NM_003482.4

p.L3734delFs

c.11201_11202delCA

1 paper

NM_003482.4

p.L3734fs

c.11200_11201fs

1 paper

NM_003482.4

p.Q3740_Q3741insQ

c.11218_11222ins3

1 paper

NM_003482.4

p.Q3740ins1

c.11219_11220insGCA

1 paper

NM_003482.4

p.Q3740Q

c.11220G>A