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

3 papers

NM_003482.4

p.Q4417*

c.13249C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q4417R

c.13250A>G

1 paper

NM_003482.4

p.K4416R

c.13247A>G

1 paper

NM_003482.4

p.K4416*

c.13246A>T

1 paper

NM_003482.4

p.I4415T

c.13244T>C

1 paper

NM_003482.4

p.P4419L

c.13256C>T

1 paper

NM_003482.4

p.R4420fs

c.13258_13259fs

8 papers

NM_003482.4

p.R4420W

c.13258C>T

4 papers

NM_003482.4

p.R4420Q

c.13259G>A

1 paper

NM_003482.4

p.L4413_S4414insFs

c.13239_13240insT

1 paper

NM_003482.4

p.E4421fs

c.13261_13262fs

1 paper

NM_003482.4

p.E4421G

c.13262A>G

1 paper

NM_003482.4

p.E4421delFs

c.13261delC