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.E549D

c.1647A>T

Surrounding Variants

1 paper

NM_014727.3

p.E549D

c.1647A>C

1 paper

NM_014727.3

p.E549G

c.1646A>G

1 paper

NM_014727.3

p.D550fs

c.1648_1649fs

14 papers

NM_014727.3

p.P552insFs

c.1656dupC

2 papers

NM_014727.3

p.D550V

c.1649A>T

3 papers

NM_014727.3

p.P552delFs

c.1656delC

1 paper

NM_014727.3

p.P551L

c.1652C>T

1 paper

NM_014727.3

p.P551P

c.1653C>T

1 paper

NM_014727.3

p.P552P

c.1656C>T

3 papers

NM_014727.3

p.K553fs

c.1657_1658fs

1 paper

NM_014727.3

p.K553Q

c.1657A>C

8 papers

NM_014727.3

p.K553fs

c.1657_1658fs