Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.A2329insFs

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.A2329insFs
c.6986_6987insT
Surrounding Variants
2 papers
NM_003482.4
p.A2329_P2330insFs
c.6987_6988insT
1 paper
NM_003482.4
p.P2330insFs
c.6988_6989insT
2 papers
NM_003482.4
p.P2330fs
c.6988_6989fs
2 papers
NM_003482.4
p.L2331fs
c.6991_6992fs
3 papers
NM_003482.4
p.L2331insFs
c.6991dupC
6 papers
NM_003482.4
p.L2331delFs
c.6991delG
3 papers
NM_003482.4
p.L2331fs
c.6991_6992fs
1 paper
NM_003482.4
p.L2331delFs
c.6992delA
2 papers
NM_003482.4
p.P2333L
c.6998C>T
2 papers
NM_003482.4
p.D2325N
c.6973G>A
1 paper
NM_003482.4
p.T2323_P2324delFs
c.6968_6972del5
2 papers
NM_003482.4
p.P2324insFs
c.6971dupC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."