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.R2771R

c.8311C>A

Surrounding Variants

28 papers

NM_003482.4

p.R2771*

c.8311C>T

1 paper

NM_003482.4

p.R2771Q

c.8312G>A

1 paper

NM_003482.4

p.D2769_D2770delFs

c.8307_8308delCA

2 papers

NM_003482.4

p.S2768_D2769delFs

c.8304_8307del4

4 papers

NM_003482.4

p.D2769N

c.8305G>A

1 paper

NM_003482.4

p.S2768S

c.8304C>T

1 paper

NM_003482.4

p.S2773delFs

c.8317_8318delGA

1 paper

NM_003482.4

p.R2774W

c.8320C>T

2 papers

NM_003482.4

p.S2768fs

c.8302_8303fs

1 paper

NM_003482.4

p.R2774L

c.8321G>T

1 paper

NM_003482.4

p.P2775S

c.8323C>T

1 paper

NM_003482.4

p.P2775fs

c.8323_8324fs