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

1–12 of 1681 variants

14 papers

NM_014727.3

p.P552insFs

c.1656dupC

11 papers

NM_014727.3

p.T172insFs

c.515dupC

9 papers

NM_014727.3

p.R545*

c.1633C>T

9 papers

NM_014727.3

p.Q810*

c.2428C>T

9 papers

NM_014727.3

p.A1616V

c.4847C>T

9 papers

NM_014727.3

p.R1705Q

c.5114G>A

8 papers

NM_014727.3

p.A4A

c.12G>C

8 papers

NM_014727.3

p.K553fs

c.1657_1658fs

8 papers

NM_014727.3

p.R564*

c.1690C>T

8 papers

NM_014727.3

p.R1015*

c.3043C>T

8 papers

NM_014727.3

p.A1541V

c.4622C>T

8 papers

NM_014727.3

p.L1877delFs

c.5631delG