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.S9I

c.26G>T

Surrounding Variants

4 papers

NM_014727.3

p.S9fs

c.25_26fs

1 paper

NM_014727.3

p.C10C

c.30C>T

1 paper

NM_014727.3

p.G8ins1

c.23_24insCAG

1 paper

NM_014727.3

p.G7D

c.20G>A

2 papers

NM_014727.3

p.G12R

c.34G>A

2 papers

NM_014727.3

p.G12R

c.34G>C

2 papers

NM_014727.3

p.G12A

c.35G>C

6 papers

NM_014727.3

p.G12V

c.35G>T

1 paper

NM_014727.3

p.A5A

c.15G>A

1 paper

NM_014727.3

p.A5_G6insFs

c.15_16insCC

1 paper

NM_014727.3

p.G6delFs

c.16delG

1 paper

NM_014727.3

p.A5P

c.13G>C