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.E63Q

c.187G>C

Surrounding Variants

1 paper

NM_014727.3

p.E63K

c.187G>A

1 paper

NM_014727.3

p.D64Y

c.190G>T

1 paper

NM_014727.3

p.D64V

c.191A>T

1 paper

NM_014727.3

p.P61L

c.182C>T

1 paper

NM_014727.3

p.T65M

c.194C>T

1 paper

NM_014727.3

p.A66S

c.196G>T

1 paper

NM_014727.3

p.A59G

c.176C>G

1 paper

NM_014727.3

p.L67R

c.200T>G

1 paper

NM_014727.3

p.L68F

c.202C>T

1 paper

NM_014727.3

p.G58R

c.172G>A

1 paper

NM_014727.3

p.G58R

c.172G>C

1 paper

NM_014727.3

p.G58insFs

c.173_174ins16