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

5 papers

NM_003482.4

p.M2652L

c.7954A>C

Surrounding Variants

5 papers

NM_003482.4

p.M2652L

c.7954A>T

1 paper

NM_003482.4

p.S2654N

c.7961G>A

1 paper

NM_003482.4

p.S2654delFs

c.7960delT

1 paper

NM_003482.4

p.S2654fs

c.7960_7961fs

1 paper

NM_003482.4

p.L2656*

c.7967T>A

1 paper

NM_003482.4

p.D2647fs

c.7939_7940fs

1 paper

NM_003482.4

p.D2647N

c.7939G>A

1 paper

NM_003482.4

p.E2646delFs

c.7938delT

3 papers

NM_003482.4

p.A2657V

c.7970C>T

1 paper

NM_003482.4

p.E2646D

c.7938A>T

1 paper

NM_003482.4

p.E2646D

c.7938A>C

1 paper

NM_003482.4

p.A2657A

c.7971G>A