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

4 papers

NM_003482.4

p.L1926fs

c.5776_5777fs

Surrounding Variants

1 paper

NM_003482.4

p.F1925_L1926insFs

c.5775_5776insT

1 paper

NM_003482.4

p.F1925delFs

c.5775delA

2 papers

NM_003482.4

p.L1926fs

c.5776_5777fs

4 papers

NM_003482.4

p.Q1927*

c.5779C>T

2 papers

NM_003482.4

p.F1925_L1926delFs

c.5775_5778del4

1 paper

NM_003482.4

p.Q1927fs

c.5779_5780fs

1 paper

NM_003482.4

p.Q1927P

c.5780A>C

4 papers

NM_003482.4

p.Q1927delFs

c.5779delG

1 paper

NM_003482.4

p.G1928Splc

c.5782+1G>T

1 paper

NM_003482.4

p.R1923fs

c.5767_5768fs

5 papers

NM_003482.4

p.G1928Splc

c.5782+1G>A

1 paper

NM_003482.4

p.R1923delFs

c.5767delT