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

3 papers

NM_003482.4

p.Q3764*

c.11290C>T

Surrounding Variants

1 paper

NM_003482.4

p.T3765R

c.11294C>G

1 paper

NM_003482.4

p.G3762V

c.11285G>T

1 paper

NM_003482.4

p.N3766_Q3767Fs

c.11298_11299delinsTFs

1 paper

NM_003482.4

p.Q3767fs

c.11299_11300fs

1 paper

NM_003482.4

p.G3760delFs

c.11279delC

1 paper

NM_003482.4

p.G3760S

c.11278G>A

6 papers

NM_003482.4

p.Q3759*

c.11275C>T

1 paper

NM_003482.4

p.Q3758fs

c.11272_11273fs

1 paper

NM_003482.4

p.Q3758*

c.11272C>T

1 paper

NM_003482.4

p.Q3757H

c.11271G>T

1 paper

NM_003482.4

p.Q3757H

c.11271G>C

1 paper

NM_003482.4

p.G3770D

c.11309G>A