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.P784L

c.2351C>T

Surrounding Variants

1 paper

NM_014727.3

p.S782C

c.2345C>G

1 paper

NM_014727.3

p.S786C

c.2357C>G

1 paper

NM_014727.3

p.E789_E790del1

c.2366_2368delAGG

1 paper

NM_014727.3

p.V780_G781insA

c.2338_2342ins3

1 paper

NM_014727.3

p.E789fs

c.2365_2366fs

3 papers

NM_014727.3

p.E790K

c.2368G>A

1 paper

NM_014727.3

p.K791del1

c.2371_2372delAAG

1 paper

NM_014727.3

p.A775insFs

c.2324_2325ins8

1 paper

NM_014727.3

p.E773G

c.2318A>G

1 paper

NM_014727.3

p.L772insFs

c.2314_2315ins17

2 papers

NM_014727.3

p.P771S

c.2311C>T

1 paper

NM_014727.3

p.P771_L772del2

c.2311_2315del6