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.Q3839fs

c.11515_11516fs

Surrounding Variants

1 paper

NM_003482.4

p.Q3839P

c.11516A>C

3 papers

NM_003482.4

p.Q3839insFs

c.11515dupC

2 papers

NM_003482.4

p.Q3839delFs

c.11515delG

3 papers

NM_003482.4

p.Q3839fs

c.11515_11516fs

3 papers

NM_003482.4

p.Q3839*

c.11515C>T

1 paper

NM_003482.4

p.L3840insFs

c.11519dupT

1 paper

NM_003482.4

p.L3840fs

c.11518_11519fs

1 paper

NM_003482.4

p.P3838S

c.11512C>T

1 paper

NM_003482.4

p.A3841fs

c.11521_11522fs

4 papers

NM_003482.4

p.Q3842*

c.11524C>T

4 papers

NM_003482.4

p.Q3843*

c.11527C>T

1 paper

NM_003482.4

p.Q3843Q

c.11529G>A