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.R4096delFs

c.12288delC

Surrounding Variants

1 paper

NM_003482.4

p.L4097delFs

c.12291delA

1 paper

NM_003482.4

p.L4095R

c.12284T>G

1 paper

NM_003482.4

p.P4098fs

c.12292_12293fs

1 paper

NM_003482.4

p.P4094S

c.12280C>T

1 paper

NM_003482.4

p.Q4090_L4091del2

c.12268_12272del6

1 paper

NM_003482.4

p.Q4101*

c.12301C>T

3 papers

NM_003482.4

p.Q4101P

c.12302A>C

7 papers

NM_003482.4

p.Q4092*

c.12274C>T

4 papers

NM_003482.4

p.Q4102*

c.12304C>T

1 paper

NM_003482.4

p.Q4090del1

c.12268_12270delCTG

2 papers

NM_003482.4

p.Q4103*

c.12307C>T

5 papers

NM_003482.4

p.Q4090*

c.12268C>T