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

4 papers

NM_003482.4

p.F5034V

c.15100T>G

Surrounding Variants

1 paper

NM_003482.4

p.C5033fs

c.15097_15098fs

1 paper

NM_003482.4

p.F5034S

c.15101T>C

1 paper

NM_003482.4

p.F5034F

c.15102C>T

1 paper

NM_003482.4

p.C5035S

c.15103T>A

1 paper

NM_003482.4

p.C5035S

c.15104G>C

2 papers

NM_003482.4

p.C5035Y

c.15104G>A

1 paper

NM_003482.4

p.C5032R

c.15094T>C

1 paper

NM_003482.4

p.R5031H

c.15092G>A

1 paper

NM_003482.4

p.R5031C

c.15091C>T

3 papers

NM_003482.4

p.R5030H

c.15089G>A

2 papers

NM_003482.4

p.H5036_E5037del1

c.15108_15110delTCA

1 paper

NM_003482.4

p.E5038*

c.15112G>T