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.L614fs

c.1840_1841fs

Surrounding Variants

1 paper

NM_014727.3

p.R616Q

c.1847G>A

1 paper

NM_014727.3

p.W611C

c.1833G>C

1 paper

NM_014727.3

p.W611C

c.1833G>T

1 paper

NM_014727.3

p.P619S

c.1855C>T

1 paper

NM_014727.3

p.T608_L614insFs

c.1822_1840dup19

1 paper

NM_014727.3

p.P620P

c.1860T>C

3 papers

NM_014727.3

p.P621fs

c.1861_1862fs

1 paper

NM_014727.3

p.P621S

c.1861C>T

1 paper

NM_014727.3

p.P621delFs

c.1863delT

1 paper

NM_014727.3

p.P622L

c.1865C>T

2 papers

NM_014727.3

p.P623_A624delFs

c.1869_1870delAG

1 paper

NM_014727.3

p.P623P

c.1869A>C