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.G35R

c.103G>A

Surrounding Variants

1 paper

NM_014727.3

p.G35R

c.103G>C

1 paper

NM_014727.3

p.G35*

c.103G>T

1 paper

NM_014727.3

p.G34V

c.101G>T

3 papers

NM_014727.3

p.G34R

c.100G>C

1 paper

NM_014727.3

p.R36L

c.107G>T

1 paper

NM_014727.3

p.R33S

c.97C>A

1 paper

NM_014727.3

p.G32C

c.94G>T

1 paper

NM_014727.3

p.A40delFs

c.118delG

3 papers

NM_014727.3

p.G31R

c.91G>A

2 papers

NM_014727.3

p.G31R

c.91G>C

1 paper

NM_014727.3

p.G31ins2

c.91_92ins6

2 papers

NM_014727.3

p.A40T

c.118G>A