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.G292R

c.874G>C

Surrounding Variants

1 paper

NM_014727.3

p.G292fs

c.874_875fs

1 paper

NM_014727.3

p.G291E

c.872G>A

1 paper

NM_014727.3

p.R293M

c.878G>T

1 paper

NM_014727.3

p.G294G

c.882C>T

1 paper

NM_014727.3

p.R295C

c.883C>T

1 paper

NM_014727.3

p.R295H

c.884G>A

1 paper

NM_014727.3

p.G288E

c.863G>A

1 paper

NM_014727.3

p.G296S

c.886G>A

3 papers

NM_014727.3

p.R287H

c.860G>A

1 paper

NM_014727.3

p.R287insFs

c.860_861insT

1 paper

NM_014727.3

p.R287insFs

c.859_860insT

1 paper

NM_014727.3

p.R297Q

c.890G>A