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.L2398V

c.7192C>G

Surrounding Variants

1 paper

NM_003482.4

p.L2398fs

c.7192_7193fs

1 paper

NM_003482.4

p.A2397V

c.7190C>T

1 paper

NM_003482.4

p.A2397G

c.7190C>G

1 paper

NM_003482.4

p.A2397fs

c.7189_7190fs

1 paper

NM_003482.4

p.C2396_A2397insFs

c.7188_7189insC

1 paper

NM_003482.4

p.C2396R

c.7186T>C

3 papers

NM_003482.4

p.P2400A

c.7198C>G

1 paper

NM_003482.4

p.C2395fs

c.7183_7184fs

1 paper

NM_003482.4

p.P2400insFs

c.7199dupC

4 papers

NM_003482.4

p.P2400fs

c.7198_7199fs

1 paper

NM_003482.4

p.P2400delFs

c.7199delG

1 paper

NM_003482.4

p.R2401G

c.7201C>G