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.L196delFs

c.588delT

Surrounding Variants

2 papers

NM_014727.3

p.L197delFs

c.589delC

1 paper

NM_014727.3

p.L197F

c.589C>T

1 paper

NM_014727.3

p.L197H

c.590T>A

1 paper

NM_014727.3

p.L197P

c.590T>C

1 paper

NM_014727.3

p.R198L

c.593G>T

1 paper

NM_014727.3

p.R199Q

c.596G>A

1 paper

NM_014727.3

p.A192T

c.574G>A

1 paper

NM_014727.3

p.A200T

c.598G>A

1 paper

NM_014727.3

p.A200G

c.599C>G

1 paper

NM_014727.3

p.Q191*

c.571C>T

1 paper

NM_014727.3

p.R188L

c.563G>T

1 paper

NM_014727.3

p.T186P

c.556A>C