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.T1919_P1920insGA

c.5755_5759ins6

Surrounding Variants

1 paper

NM_003482.4

p.R1918P

c.5753G>C

2 papers

NM_003482.4

p.R1918H

c.5753G>A

2 papers

NM_003482.4

p.R1918C

c.5752C>T

1 paper

NM_003482.4

p.P1920delFs

c.5760delT

1 paper

NM_003482.4

p.G1916S

c.5746G>A

6 papers

NM_003482.4

p.Q1922*

c.5764C>T

1 paper

NM_003482.4

p.Q1922R

c.5765A>G

1 paper

NM_003482.4

p.R1923ins4

c.5767_5768ins12

1 paper

NM_003482.4

p.R1923delFs

c.5767delT

1 paper

NM_003482.4

p.G1913_L1914Fs

c.5738_5742delinsTCTTFs

1 paper

NM_003482.4

p.R1923fs

c.5767_5768fs

1 paper

NM_003482.4

p.G1913_L1914ins5

c.5739_5740ins15