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.S3_Q4insFs

c.9_10insCC

Surrounding Variants

1 paper

NM_003482.4

p.Q4L

c.11A>T

1 paper

NM_003482.4

p.Q4R

c.11A>G

1 paper

NM_003482.4

p.Q4insFs

c.11_12insT

1 paper

NM_003482.4

p.Q4insFs

c.10dupC

19 papers

NM_003482.4

p.Q4H

c.12G>C

7 papers

NM_003482.4

p.Q4Q

c.12G>A

1 paper

NM_003482.4

p.Q4*

c.10C>T

1 paper

NM_003482.4

p.S3delins

c.9delinsG

1 paper

NM_003482.4

p.S3insFs

c.8dupG

1 paper

NM_003482.4

p.K5E

c.13A>G

1 paper

NM_003482.4

p.K5Q

c.13A>C

1 paper

NM_003482.4

p.S3I

c.8G>T