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.A717T

c.2149G>A

Surrounding Variants

1 paper

NM_014727.3

p.A717V

c.2150C>T

1 paper

NM_014727.3

p.E718*

c.2152G>T

1 paper

NM_014727.3

p.V719E

c.2156T>A

1 paper

NM_014727.3

p.S720F

c.2159C>T

1 paper

NM_014727.3

p.T713insFs

c.2137dupA

2 papers

NM_014727.3

p.A726T

c.2176G>A

1 paper

NM_014727.3

p.A708T

c.2122G>A

1 paper

NM_014727.3

p.R706*

c.2116C>T

2 papers

NM_014727.3

p.S728N

c.2183G>A

1 paper

NM_014727.3

p.R706_F707del2

c.2116_2120del6

1 paper

NM_014727.3

p.S728R

c.2184C>G

1 paper

NM_014727.3

p.N729D

c.2185A>G