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.P88_F89insFs

c.264_265insGT

Surrounding Variants

1 paper

NM_003482.4

p.P88P

c.264A>G

1 paper

NM_003482.4

p.P88delFs

c.263delG

1 paper

NM_003482.4

p.F89fs

c.265_266fs

1 paper

NM_003482.4

p.P88S

c.262C>T

1 paper

NM_003482.4

p.L87insFs

c.260dupT

1 paper

NM_003482.4

p.E86_L87ins0

c.257_259dupAGT

1 paper

NM_003482.4

p.D90fs

c.268_269fs

1 paper

NM_003482.4

p.D90H

c.268G>C

1 paper

NM_003482.4

p.F89delFs

c.267delA

1 paper

NM_003482.4

p.D90E

c.270T>A

1 paper

NM_003482.4

p.E86E

c.258G>A

1 paper

NM_003482.4

p.W91fs

c.271_272fs