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.H4132delFs

c.12395delT

Surrounding Variants

1 paper

NM_003482.4

p.L4133M

c.12397C>A

2 papers

NM_003482.4

p.P4131L

c.12392C>T

1 paper

NM_003482.4

p.V4130fs

c.12388_12389fs

2 papers

NM_003482.4

p.V4130M

c.12388G>A

6 papers

NM_003482.4

p.Q4136*

c.12406C>T

1 paper

NM_003482.4

p.Q4136H

c.12408G>T

1 paper

NM_003482.4

p.Q4136H

c.12408G>C

1 paper

NM_003482.4

p.S4128L

c.12383C>T

1 paper

NM_003482.4

p.S4124_S4128delFs

c.12370_12382del13

7 papers

NM_003482.4

p.A4135_Q4136del2

c.12403_12407del6

1 paper

NM_003482.4

p.P4137fs

c.12409_12410fs

1 paper

NM_003482.4

p.P4137delFs

c.12409delG