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.Q3612H

c.10836G>T

Surrounding Variants

1 paper

NM_003482.4

p.Q3612H

c.10836G>C

9 papers

NM_003482.4

p.Q3612Q

c.10836G>A

1 paper

NM_003482.4

p.Q3612*

c.10834C>T

2 papers

NM_003482.4

p.Q3612del1

c.10834_10835delCTG

1 paper

NM_003482.4

p.Q3604_Q3611del0

c.10812_10832del21

1 paper

NM_003482.4

p.Q3611P

c.10832A>C

1 paper

NM_003482.4

p.Q3611*

c.10831C>T

8 papers

NM_003482.4

p.S3614*

c.10841C>G

6 papers

NM_003482.4

p.S3614*

c.10841C>A

1 paper

NM_003482.4

p.Q3611K

c.10831C>A

1 paper

NM_003482.4

p.Q3610H

c.10830G>T

1 paper

NM_003482.4

p.Q3609ins0

c.10825_10827dupCAA