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.I540T

c.1619T>C

Surrounding Variants

1 paper

NM_014727.3

p.T542insFs

c.1624dupA

1 paper

NM_014727.3

p.R538H

c.1613G>A

1 paper

NM_014727.3

p.P543fs

c.1627_1628fs

3 papers

NM_014727.3

p.P543L

c.1628C>T

1 paper

NM_014727.3

p.S537F

c.1610C>T

9 papers

NM_014727.3

p.R545*

c.1633C>T

1 paper

NM_014727.3

p.R545delFs

c.1634delG

1 paper

NM_014727.3

p.R535H

c.1604G>A

1 paper

NM_014727.3

p.R545Q

c.1634G>A

1 paper

NM_014727.3

p.R535C

c.1603C>T

1 paper

NM_014727.3

p.V532A

c.1595T>C

1 paper

NM_014727.3

p.E549G

c.1646A>G