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.E2646D

c.7938A>C

Surrounding Variants

1 paper

NM_003482.4

p.E2646D

c.7938A>T

1 paper

NM_003482.4

p.D2647N

c.7939G>A

1 paper

NM_003482.4

p.E2646delFs

c.7938delT

2 papers

NM_003482.4

p.E2646*

c.7936G>T

1 paper

NM_003482.4

p.D2647fs

c.7939_7940fs

4 papers

NM_003482.4

p.R2645Q

c.7934G>A

26 papers

NM_003482.4

p.R2645*

c.7933C>T

1 paper

NM_003482.4

p.K2644fs

c.7930_7931fs

1 paper

NM_003482.4

p.E2643_K2644ins2

c.7929_7930ins6

1 paper

NM_003482.4

p.E2643delFs

c.7927_7928delTC

1 paper

NM_003482.4

p.E2643K

c.7927G>A

1 paper

NM_003482.4

p.E2643fs

c.7927_7928fs