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

9 papers

NM_014727.3

p.Q810*

c.2428C>T

Surrounding Variants

2 papers

NM_014727.3

p.Q809fs

c.2425_2426fs

4 papers

NM_014727.3

p.Q809*

c.2425C>T

1 paper

NM_014727.3

p.Q809delFs

c.2425delC

1 paper

NM_014727.3

p.Q808ins1

c.2423_2424insCAG

1 paper

NM_014727.3

p.Q808R

c.2423A>G

1 paper

NM_014727.3

p.Q811_Q812insFs

c.2433_2434insCA

2 papers

NM_014727.3

p.Q808ins1

c.2422_2423insCAG

1 paper

NM_014727.3

p.Q812*

c.2434C>T

3 papers

NM_014727.3

p.D807_Q808ins1

c.2421_2422insCAG

5 papers

NM_014727.3

p.Q812del1

c.2434_2435delCAG

1 paper

NM_014727.3

p.I806_D807del1

c.2418_2420delCGA

1 paper

NM_014727.3

p.M818fs

c.2452_2453fs