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.K2985fs

c.8953_8954fs

Surrounding Variants

1 paper

NM_003482.4

p.K2985*

c.8953A>T

2 papers

NM_003482.4

p.G2984delFs

c.8952delC

1 paper

NM_003482.4

p.G2984fs

c.8950_8951fs

1 paper

NM_003482.4

p.G2984E

c.8951G>A

1 paper

NM_003482.4

p.C2988fs

c.8962_8963fs

3 papers

NM_003482.4

p.E2989*

c.8965G>T

1 paper

NM_003482.4

p.D2990A

c.8969A>C

3 papers

NM_003482.4

p.A2980V

c.8939C>T

1 paper

NM_003482.4

p.P2991S

c.8971C>T

2 papers

NM_003482.4

p.A2980delFs

c.8938delC

2 papers

NM_003482.4

p.A2980fs

c.8938_8939fs

4 papers

NM_003482.4

p.E2992*

c.8974G>T