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.F5241L

c.15723T>A

Surrounding Variants

1 paper

NM_003482.4

p.F5241L

c.15723T>G

1 paper

NM_003482.4

p.F5241L

c.15721T>C

1 paper

NM_003482.4

p.E5240*

c.15718G>T

1 paper

NM_003482.4

p.N5236_P5239Fs

c.15708_15717delinsTAFs

1 paper

NM_003482.4

p.P5239L

c.15716C>T

3 papers

NM_003482.4

p.K5244*

c.15730A>T

1 paper

NM_003482.4

p.K5244fs

c.15730_15731fs

1 paper

NM_003482.4

p.P5239A

c.15715C>G

3 papers

NM_003482.4

p.K5244fs

c.15730_15731fs

1 paper

NM_003482.4

p.R5238Q

c.15713G>A

3 papers

NM_003482.4

p.K5244delFs

c.15731_15732delTT

1 paper

NM_003482.4

p.V5245G

c.15734T>G