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.V3581fs

c.10741_10742fs

Surrounding Variants

4 papers

NM_003482.4

p.R3582W

c.10744C>T

1 paper

NM_003482.4

p.R3582L

c.10745G>T

4 papers

NM_003482.4

p.R3582Q

c.10745G>A

1 paper

NM_003482.4

p.Q3580_V3581Splc

c.10741-2A>T

1 paper

NM_003482.4

p.Q3580_V3581Splc

c.10741-2A>C

4 papers

NM_003482.4

p.Q3584*

c.10750C>T

1 paper

NM_003482.4

p.Q3580_V3581Splc

c.10741-6T>C

1 paper

NM_003482.4

p.Q3584L

c.10751A>T

3 papers

NM_003482.4

p.Q3580_V3581Splc

c.10741-7A>G

1 paper

NM_003482.4

p.Q3585*

c.10753C>T

2 papers

NM_003482.4

p.Q3585_K3586insA

c.10753_10757ins3

1 paper

NM_003482.4

p.Q3585P

c.10754A>C