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.S3981_R3982ins1

c.11943_11944insCAG

Surrounding Variants

1 paper

NM_003482.4

p.S3981fs

c.11941_11942fs

1 paper

NM_003482.4

p.Q3980_S3981Fs

c.11940_11942delinsCAFs

15 papers

NM_003482.4

p.R3982*

c.11944C>T

1 paper

NM_003482.4

p.R3982L

c.11945G>T

1 paper

NM_003482.4

p.R3982Q

c.11945G>A

1 paper

NM_003482.4

p.Q3980fs

c.11938_11939fs

1 paper

NM_003482.4

p.Q3980delFs

c.11939delT

1 paper

NM_003482.4

p.T3983A

c.11947A>G

2 papers

NM_003482.4

p.Q3980*

c.11938C>T

1 paper

NM_003482.4

p.Q3980K

c.11938C>A

1 paper

NM_003482.4

p.L3984S

c.11951T>C

1 paper

NM_003482.4

p.L3978fs

c.11932_11933fs