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.G3803insFs

c.11408_11409ins4

Surrounding Variants

1 paper

NM_003482.4

p.G3803A

c.11408G>C

1 paper

NM_003482.4

p.G3803G

c.11409C>T

1 paper

NM_003482.4

p.G3803fs

c.11407_11408fs

1 paper

NM_003482.4

p.Q3796_P3804delFs

c.11386_11411del26

1 paper

NM_003482.4

p.A3805T

c.11413G>A

1 paper

NM_003482.4

p.Q3806*

c.11416C>T

1 paper

NM_003482.4

p.G3800S

c.11398G>A

1 paper

NM_003482.4

p.Q3799fs

c.11395_11396fs

5 papers

NM_003482.4

p.Q3799*

c.11395C>T

1 paper

NM_003482.4

p.A3808S

c.11422G>T

1 paper

NM_003482.4

p.A3808delFs

c.11422delC

1 paper

NM_003482.4

p.A3808fs

c.11422_11423fs