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

2 papers

NM_003482.4

p.L4426insFs

c.13277dupT

Surrounding Variants

1 paper

NM_003482.4

p.A4425fs

c.13273_13274fs

1 paper

NM_003482.4

p.A4428fs

c.13282_13283fs

1 paper

NM_003482.4

p.A4425S

c.13273G>T

1 paper

NM_003482.4

p.C4424*

c.13272T>A

6 papers

NM_003482.4

p.Q4429*

c.13285C>T

1 paper

NM_003482.4

p.Q4429L

c.13286A>T

1 paper

NM_003482.4

p.Q4429delFs

c.13285delG

1 paper

NM_003482.4

p.Q4429fs

c.13285_13286fs

1 paper

NM_003482.4

p.V4431A

c.13292T>C

1 paper

NM_003482.4

p.E4421G

c.13262A>G

1 paper

NM_003482.4

p.V4431delFs

c.13293delC

1 paper

NM_003482.4

p.E4421delFs

c.13261delC