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.P495fs

c.1483_1484fs

Surrounding Variants

1 paper

NM_014727.3

p.P495_T496delFs

c.1483_1486del4

1 paper

NM_014727.3

p.S493T

c.1477T>A

1 paper

NM_014727.3

p.P497L

c.1490C>T

2 papers

NM_014727.3

p.T498N

c.1493C>A

1 paper

NM_014727.3

p.S500C

c.1498A>T

1 paper

NM_014727.3

p.E490*

c.1468G>T

1 paper

NM_014727.3

p.A487S

c.1459G>T

1 paper

NM_014727.3

p.G504_G505ins0

c.1510_1515dup6

1 paper

NM_014727.3

p.G504_G505delFs

c.1512_1513delAG

1 paper

NM_014727.3

p.P506fs

c.1516_1517fs

1 paper

NM_014727.3

p.E483insFs

c.1448dupA

1 paper

NM_014727.3

p.E483*

c.1447G>T