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.M2669R

c.8006T>G

Surrounding Variants

2 papers

NM_003482.4

p.G2671S

c.8011G>A

1 paper

NM_003482.4

p.L2672R

c.8015T>G

1 paper

NM_003482.4

p.S2673C

c.8017A>T

2 papers

NM_003482.4

p.Q2665*

c.7993C>T

1 paper

NM_003482.4

p.G2663insFs

c.7987_7988dupGG

1 paper

NM_003482.4

p.T2675fs

c.8023_8024fs

1 paper

NM_003482.4

p.T2675fs

c.8023_8024fs

1 paper

NM_003482.4

p.E2676*

c.8026G>T

1 paper

NM_003482.4

p.E2676fs

c.8026_8027fs

1 paper

NM_003482.4

p.E2676delFs

c.8026delC

6 papers

NM_003482.4

p.E2676fs

c.8026_8027fs

3 papers

NM_003482.4

p.E2676delFs

c.8027_8028delCT