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.A5063fs

c.15187_15188fs

Surrounding Variants

1 paper

NM_003482.4

p.A5063T

c.15187G>A

1 paper

NM_003482.4

p.C5062*

c.15186T>A

1 paper

NM_003482.4

p.C5062S

c.15185G>C

2 papers

NM_003482.4

p.C5062Y

c.15185G>A

1 paper

NM_003482.4

p.H5059_A5063delFs

c.15176_15188del13

1 paper

NM_003482.4

p.C5062R

c.15184T>C

1 paper

NM_003482.4

p.C5062S

c.15184T>A

1 paper

NM_003482.4

p.L5064_W5065ins7

c.15190_15194ins21

1 paper

NM_003482.4

p.L5064P

c.15191T>C

1 paper

NM_003482.4

p.W5057_N5061delFs

c.15170_15182del13

1 paper

NM_003482.4

p.N5061I

c.15182A>T

1 paper

NM_003482.4

p.W5065S

c.15194G>C