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

2 papers

NM_014727.3

p.R217W

c.649C>T

Surrounding Variants

1 paper

NM_014727.3

p.R217fs

c.649_650fs

1 paper

NM_014727.3

p.R217fs

c.649_650fs

2 papers

NM_014727.3

p.P216H

c.647C>A

3 papers

NM_014727.3

p.P216R

c.647C>G

1 paper

NM_014727.3

p.P216L

c.647C>T

3 papers

NM_014727.3

p.R217insFs

c.649dupC

1 paper

NM_014727.3

p.T215fs

c.643_644fs

1 paper

NM_014727.3

p.R217delFs

c.649delC

1 paper

NM_014727.3

p.G221insFs

c.662_663insG

1 paper

NM_014727.3

p.R220Q

c.659G>A

2 papers

NM_014727.3

p.P213_S214delFs

c.638_641del4

1 paper

NM_014727.3

p.R222W

c.664C>T