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

2 papers

NM_003482.4

p.E4887Q

c.14659G>C

Surrounding Variants

4 papers

NM_003482.4

p.E4887*

c.14659G>T

2 papers

NM_003482.4

p.A4885T

c.14653G>A

1 paper

NM_003482.4

p.T4890I

c.14669C>T

1 paper

NM_003482.4

p.S4883delFs

c.14648delC

1 paper

NM_003482.4

p.T4890fs

c.14668_14669fs

2 papers

NM_003482.4

p.Q4891*

c.14671C>T

1 paper

NM_003482.4

p.S4883fs

c.14647_14648fs

1 paper

NM_003482.4

p.E4882fs

c.14644_14645fs

1 paper

NM_003482.4

p.Q4891Q

c.14673G>A

1 paper

NM_003482.4

p.T4890_Q4891delFs

c.14669_14672del4

1 paper

NM_003482.4

p.E4882*

c.14644G>T

1 paper

NM_003482.4

p.Q4881_E4882Splc

c.14644-1G>C