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.S2747N

c.8240G>A

Surrounding Variants

1 paper

NM_003482.4

p.D2744fs

c.8230_8231fs

2 papers

NM_003482.4

p.Q2743_D2744Splc

c.8230-1G>A

1 paper

NM_003482.4

p.Q2743_D2744Splc

c.8230-2A>G

2 papers

NM_003482.4

p.P2752S

c.8254C>T

1 paper

NM_003482.4

p.P2753S

c.8257C>T

1 paper

NM_003482.4

p.P2753insFs

c.8257_8258dupCC

1 paper

NM_003482.4

p.S2754fs

c.8260_8261fs

1 paper

NM_003482.4

p.S2754_K2755insFs

c.8262_8263insG

1 paper

NM_003482.4

p.S2754fs

c.8260_8261fs

2 papers

NM_003482.4

p.K2755*

c.8263A>T

1 paper

NM_003482.4

p.Q2743_D2744Splc

c.8230-14C>T

1 paper

NM_003482.4

p.L2756insFs

c.8266dupC