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.G225insFs

c.674_675ins16

Surrounding Variants

1 paper

NM_014727.3

p.R226W

c.676C>T

1 paper

NM_014727.3

p.R226Q

c.677G>A

1 paper

NM_014727.3

p.P227insFs

c.679_680insAG

1 paper

NM_014727.3

p.P227S

c.679C>T

1 paper

NM_014727.3

p.P223L

c.668C>T

1 paper

NM_014727.3

p.R222W

c.664C>T

1 paper

NM_014727.3

p.P230H

c.689C>A

1 paper

NM_014727.3

p.R220Q

c.659G>A

1 paper

NM_014727.3

p.G221insFs

c.662_663insG

1 paper

NM_014727.3

p.C231R

c.691T>C

1 paper

NM_014727.3

p.R232_Q235delFs

c.696_705del10

1 paper

NM_014727.3

p.C231Y

c.692G>A