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.T475S

c.1424C>G

Surrounding Variants

1 paper

NM_014727.3

p.T475S

c.1423A>T

1 paper

NM_014727.3

p.L474fs

c.1420_1421fs

1 paper

NM_014727.3

p.P473T

c.1417C>A

1 paper

NM_014727.3

p.Q478H

c.1434G>C

1 paper

NM_014727.3

p.R479G

c.1435C>G

1 paper

NM_014727.3

p.R479W

c.1435C>T

1 paper

NM_014727.3

p.R471P

c.1412G>C

1 paper

NM_014727.3

p.R471L

c.1412G>T

1 paper

NM_014727.3

p.R471W

c.1411C>T

1 paper

NM_014727.3

p.A480V

c.1439C>T

1 paper

NM_014727.3

p.G470V

c.1409G>T

1 paper

NM_014727.3

p.G470_R471del1

c.1410_1412delCCG