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.S2970I

c.8909G>T

Surrounding Variants

1 paper

NM_003482.4

p.S2969S

c.8907G>A

1 paper

NM_003482.4

p.T2971I

c.8912C>T

1 paper

NM_003482.4

p.T2971N

c.8912C>A

1 paper

NM_003482.4

p.S2969*

c.8906C>A

1 paper

NM_003482.4

p.E2972Q

c.8914G>C

2 papers

NM_003482.4

p.P2968L

c.8903C>T

1 paper

NM_003482.4

p.L2973F

c.8917C>T

1 paper

NM_003482.4

p.L2973P

c.8918T>C

1 paper

NM_003482.4

p.R2966fs

c.8896_8897fs

1 paper

NM_003482.4

p.R2966_P2967insFs

c.8898_8899insTA

2 papers

NM_003482.4

p.R2966Q

c.8897G>A

2 papers

NM_003482.4

p.R2975C

c.8923C>T