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.G3044E

c.9131G>A

Surrounding Variants

2 papers

NM_003482.4

p.E3046*

c.9136G>T

2 papers

NM_003482.4

p.E3046K

c.9136G>A

1 paper

NM_003482.4

p.L3042F

c.9124C>T

2 papers

NM_003482.4

p.D3048H

c.9142G>C

1 paper

NM_003482.4

p.D3048G

c.9143A>G

1 paper

NM_003482.4

p.D3048fs

c.9142_9143fs

1 paper

NM_003482.4

p.L3049V

c.9145C>G

1 paper

NM_003482.4

p.D3039Y

c.9115G>T

1 paper

NM_003482.4

p.L3038_D3039delins

c.9114_9115delinsAT

1 paper

NM_003482.4

p.A3051P

c.9151G>C

1 paper

NM_003482.4

p.A3051T

c.9151G>A

2 papers

NM_003482.4

p.H3037fs

c.9109_9110fs