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.Q3959Q

c.11877G>A

Surrounding Variants

1 paper

NM_003482.4

p.Q3960*

c.11878C>T

1 paper

NM_003482.4

p.Q3959*

c.11875C>T

1 paper

NM_003482.4

p.Q3960P

c.11879A>C

1 paper

NM_003482.4

p.Q3960fs

c.11878_11879fs

2 papers

NM_003482.4

p.Q3961*

c.11881C>T

1 paper

NM_003482.4

p.Q3958*

c.11872C>T

1 paper

NM_003482.4

p.Q3957Q

c.11871G>A

1 paper

NM_003482.4

p.Q3961fs

c.11881_11882fs

1 paper

NM_003482.4

p.Q3957fs

c.11869_11870fs

3 papers

NM_003482.4

p.Q3957*

c.11869C>T

1 paper

NM_003482.4

p.Q3956insFs

c.11867_11868dupAA

1 paper

NM_003482.4

p.Q3962fs

c.11884_11885fs