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.G275delFs

c.824delG

Surrounding Variants

1 paper

NM_014727.3

p.G273fs

c.817_818fs

2 papers

NM_014727.3

p.G273fs

c.817_818fs

1 paper

NM_014727.3

p.P272L

c.815C>T

1 paper

NM_014727.3

p.P272fs

c.814_815fs

1 paper

NM_014727.3

p.P272insFs

c.816dupC

1 paper

NM_014727.3

p.P279P

c.837C>T

1 paper

NM_014727.3

p.R280fs

c.838_839fs

1 paper

NM_014727.3

p.R280K

c.839G>A

2 papers

NM_014727.3

p.R280T

c.839G>C

1 paper

NM_014727.3

p.G282E

c.845G>A

1 paper

NM_014727.3

p.G283_S285del0

c.847_855del9

1 paper

NM_014727.3

p.G283_S286delFs

c.847_857del11