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.M4001insFs

c.12002dupT

Surrounding Variants

1 paper

NM_003482.4

p.M4001I

c.12003G>T

1 paper

NM_003482.4

p.M4001fs

c.12001_12002fs

1 paper

NM_003482.4

p.M4001I

c.12003G>C

1 paper

NM_003482.4

p.M4001I

c.12003G>A

1 paper

NM_003482.4

p.M4001T

c.12002T>C

2 papers

NM_003482.4

p.A4003T

c.12007G>A

1 paper

NM_003482.4

p.P3999fs

c.11995_11996fs

3 papers

NM_003482.4

p.L4006R

c.12017T>G

3 papers

NM_003482.4

p.Q4007*

c.12019C>T

1 paper

NM_003482.4

p.Q4007K

c.12019C>A

1 paper

NM_003482.4

p.V3995fs

c.11983_11984fs

1 paper

NM_003482.4

p.H4008Y

c.12022C>T