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.L647F

c.1939C>T

Surrounding Variants

1 paper

NM_014727.3

p.R648W

c.1942C>T

1 paper

NM_014727.3

p.Q651*

c.1951C>T

1 paper

NM_014727.3

p.S640T

c.1918T>A

1 paper

NM_014727.3

p.E656insFs

c.1966dupG

1 paper

NM_014727.3

p.E656delFs

c.1966_1967delGA

1 paper

NM_014727.3

p.A638fs

c.1912_1913fs

2 papers

NM_014727.3

p.A638_S641del4

c.1912_1922del12

1 paper

NM_014727.3

p.P637S

c.1909C>T

1 paper

NM_014727.3

p.A636fs

c.1906_1907fs

2 papers

NM_014727.3

p.P635_A636delFs

c.1905_1906delTG

1 paper

NM_014727.3

p.P635fs

c.1903_1904fs

1 paper

NM_014727.3

p.P635S

c.1903C>T