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.R83W

c.247C>T

Surrounding Variants

1 paper

NM_003482.4

p.R83fs

c.247_248fs

1 paper

NM_003482.4

p.L82_R83insFs

c.246_247insA

10 papers

NM_003482.4

p.R83Q

c.248G>A

1 paper

NM_003482.4

p.L82L

c.246A>T

1 paper

NM_003482.4

p.L82fs

c.244_245fs

1 paper

NM_003482.4

p.R83fs

c.247_248fs

10 papers

NM_003482.4

p.R84C

c.250C>T

1 paper

NM_003482.4

p.Q79_E81insFs

c.236_243dup8

3 papers

NM_003482.4

p.R84H

c.251G>A

1 paper

NM_003482.4

p.F85L

c.253T>C

4 papers

NM_003482.4

p.E81*

c.241G>T

5 papers

NM_003482.4

p.E81K

c.241G>A