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.H3824Q

c.11472C>G

Surrounding Variants

2 papers

NM_003482.4

p.H3824fs

c.11470_11471fs

1 paper

NM_003482.4

p.H3824Q

c.11472C>A

1 paper

NM_003482.4

p.R3825fs

c.11473_11474fs

1 paper

NM_003482.4

p.R3825I

c.11474G>T

1 paper

NM_003482.4

p.R3825insFs

c.11473dupA

1 paper

NM_003482.4

p.R3825K

c.11474G>A

2 papers

NM_003482.4

p.H3824_R3825delFs

c.11472_11473delTG

1 paper

NM_003482.4

p.H3824Y

c.11470C>T

1 paper

NM_003482.4

p.P3823insFs

c.11468dupC

1 paper

NM_003482.4

p.G3819_R3825delFs

c.11456_11474del19

1 paper

NM_003482.4

p.Q3826fs

c.11476_11477fs

2 papers

NM_003482.4

p.Q3826fs

c.11476_11477fs