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.A5042A

c.15126C>T

Surrounding Variants

2 papers

NM_003482.4

p.T5043fs

c.15127_15128fs

1 paper

NM_003482.4

p.A5042S

c.15124G>T

1 paper

NM_003482.4

p.A5042_T5043insC

c.15124_15128ins3

1 paper

NM_003482.4

p.A5042_T5043insCC

c.15124_15128ins6

1 paper

NM_003482.4

p.T5043I

c.15128C>T

1 paper

NM_003482.4

p.T5043delFs

c.15127delT

1 paper

NM_003482.4

p.G5041G

c.15123G>C

2 papers

NM_003482.4

p.D5044N

c.15130G>A

1 paper

NM_003482.4

p.A5042_T5043delFs

c.15126_15129del4

2 papers

NM_003482.4

p.G5041R

c.15121G>C

2 papers

NM_003482.4

p.G5041R

c.15121G>A

1 paper

NM_003482.4

p.G5045W

c.15133G>T