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

2 papers

NM_003482.4

p.Q3907*

c.11719C>T

Surrounding Variants

1 paper

NM_003482.4

p.L3906del1

c.11716_11717delCAG

5 papers

NM_003482.4

p.Q3905_L3906ins0

c.11714_11716dupAGC

3 papers

NM_003482.4

p.L3906Q

c.11717T>A

4 papers

NM_003482.4

p.Q3905_L3906del1

c.11714_11716delGCT

2 papers

NM_003482.4

p.Q3905_L3906del2

c.11713_11717del6

7 papers

NM_003482.4

p.Q3908*

c.11722C>T

1 paper

NM_003482.4

p.Q3905delFs

c.11715delC

1 paper

NM_003482.4

p.Q3901_Q3907delFs

c.11703_11721del19

1 paper

NM_003482.4

p.Q3908L

c.11723A>T

5 papers

NM_003482.4

p.Q3905L

c.11714A>T

1 paper

NM_003482.4

p.Q3905fs

c.11713_11714fs

6 papers

NM_003482.4

p.Q3905*

c.11713C>T