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.L704delFs

c.2110delC

Surrounding Variants

1 paper

NM_014727.3

p.S703N

c.2108G>A

1 paper

NM_014727.3

p.S703R

c.2107A>C

1 paper

NM_014727.3

p.S703R

c.2109C>A

1 paper

NM_014727.3

p.S703R

c.2109C>G

1 paper

NM_014727.3

p.L702V

c.2104C>G

1 paper

NM_014727.3

p.R706_F707del2

c.2116_2120del6

1 paper

NM_014727.3

p.R706*

c.2116C>T

1 paper

NM_014727.3

p.A708T

c.2122G>A

1 paper

NM_014727.3

p.R698C

c.2092C>T

1 paper

NM_014727.3

p.V696_P705del10

c.2086_2114del30

1 paper

NM_014727.3

p.A695V

c.2084C>T

1 paper

NM_014727.3

p.A695fs

c.2083_2084fs