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.L741V

c.2221C>G

Surrounding Variants

1 paper

NM_014727.3

p.Q742H

c.2226G>C

1 paper

NM_014727.3

p.Q742H

c.2226G>T

3 papers

NM_014727.3

p.Q739*

c.2215C>T

1 paper

NM_014727.3

p.A743S

c.2227G>T

1 paper

NM_014727.3

p.L738P

c.2213T>C

1 paper

NM_014727.3

p.L744_L753del0

c.2232_2258del27

1 paper

NM_014727.3

p.P740_Q742del0

c.2218_2226del9

1 paper

NM_014727.3

p.Q745E

c.2233C>G

1 paper

NM_014727.3

p.Q736*

c.2206C>T

1 paper

NM_014727.3

p.Q747_P754del0

c.2239_2262del24

6 papers

NM_014727.3

p.Q747R

c.2240A>G

1 paper

NM_014727.3

p.Q747H

c.2241G>C