Varaico: Literature-Extracted Genetic Variants

KMT2B

949 papers

RefSeq Summary

This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trit...

Pfam Domains

zf-CXXCaa 958–1005UCSCCXXC zinc finger domain

PHDaa 1252–1300UCSCPHD-finger

PHDaa 1338–1393UCSCPHD-finger

zf-HC5HC2Haa 1608–1686UCSCPHD-like zinc-binding domain

FYRNaa 1727–1783UCSCF/Y-rich N-terminus

FYRCaa 2411–2493UCSCF/Y rich C-terminus

Gene Aliases

HGNC Name

lysine methyltransferase 2B

HGNC Alias Symbols

KIAA0304; MLL2; TRX2; HRX2; WBP7; MLL1B; MLL4; CXXC10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014727.3

p.E452K

c.1354G>A

Surrounding Variants

1 paper

NM_014727.3

p.E451G

c.1352A>G

1 paper

NM_014727.3

p.A449S

c.1345G>T

1 paper

NM_014727.3

p.E455*

c.1363G>T

1 paper

NM_014727.3

p.E455G

c.1364A>G

2 papers

NM_014727.3

p.A449delFs

c.1345_1346delGC

1 paper

NM_014727.3

p.P457_R467del11

c.1369_1400del33

1 paper

NM_014727.3

p.P457S

c.1369C>T

1 paper

NM_014727.3

p.P446R

c.1337C>G

1 paper

NM_014727.3

p.P446L

c.1337C>T

1 paper

NM_014727.3

p.P458S

c.1372C>T

1 paper

NM_014727.3

p.P445A

c.1333C>G

2 papers

NM_014727.3

p.S443delFs

c.1328delC