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.Q3796E

c.11386C>G

Surrounding Variants

3 papers

NM_003482.4

p.Q3796*

c.11386C>T

1 paper

NM_003482.4

p.Q3796insFs

c.11386dupC

1 paper

NM_003482.4

p.Q3796delFs

c.11386delG

1 paper

NM_003482.4

p.Q3796fs

c.11386_11387fs

1 paper

NM_003482.4

p.P3794P

c.11382A>C

1 paper

NM_003482.4

p.G3797fs

c.11389_11390fs

7 papers

NM_003482.4

p.P3794S

c.11380C>T

1 paper

NM_003482.4

p.P3798S

c.11392C>T

1 paper

NM_003482.4

p.P3798fs

c.11392_11393fs

5 papers

NM_003482.4

p.Q3799*

c.11395C>T

5 papers

NM_003482.4

p.Q3793*

c.11377C>T

2 papers

NM_003482.4

p.P3792fs

c.11374_11375fs