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.L5050_N5051del2

c.15148_15152del6

Surrounding Variants

1 paper

NM_003482.4

p.L5050_L5052del0

c.15148_15156del9

1 paper

NM_003482.4

p.N5051Y

c.15151A>T

1 paper

NM_003482.4

p.L5050P

c.15149T>C

1 paper

NM_003482.4

p.D5055fs

c.15163_15164fs

4 papers

NM_003482.4

p.L5056P

c.15167T>C

9 papers

NM_003482.4

p.D5055_L5056ins0

c.15163_15168dup6

1 paper

NM_003482.4

p.W5057R

c.15169T>C

1 paper

NM_003482.4

p.W5057R

c.15169T>A

1 paper

NM_003482.4

p.L5056del1

c.15166_15167delCAG

1 paper

NM_003482.4

p.D5055_L5056del0

c.15163_15168del6

4 papers

NM_003482.4

p.W5057*

c.15170G>A

1 paper

NM_003482.4

p.W5057fs

c.15169_15170fs