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.L5094M

c.15280C>A

Surrounding Variants

1 paper

NM_003482.4

p.L5094L

c.15280C>T

1 paper

NM_003482.4

p.C5095S

c.15283T>A

1 paper

NM_003482.4

p.C5095S

c.15284G>C

3 papers

NM_003482.4

p.C5092F

c.15275G>T

2 papers

NM_003482.4

p.C5092S

c.15275G>C

6 papers

NM_003482.4

p.C5092Y

c.15275G>A

3 papers

NM_003482.4

p.C5092R

c.15274T>C

2 papers

NM_003482.4

p.C5092S

c.15274T>A

4 papers

NM_003482.4

p.Q5096*

c.15286C>T

1 paper

NM_003482.4

p.L5084_K5091delFs

c.15250_15272del23

1 paper

NM_003482.4

p.K5091R

c.15272A>G

18 papers

NM_003482.4

p.R5097*

c.15289C>T