Varaico: Literature-Extracted Genetic Variants

KMT2A

1,639 papers

RefSeq Summary

This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved f...

Pfam Domains

zf-CXXCaa 1147–1194UCSCCXXC zinc finger domain

PHDaa 1482–1530UCSCPHD-finger

PHDaa 1569–1624UCSCPHD-finger

zf-HC5HC2Haa 1900–1978UCSCPHD-like zinc-binding domain

FYRNaa 2018–2074UCSCF/Y-rich N-terminus

FYRCaa 3666–3748UCSCF/Y rich C-terminus

Gene Aliases

HGNC Name

lysine methyltransferase 2A

HGNC Previous Symbol

MLL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001197104.2

p.E856K

c.2566G>A

Surrounding Variants

1 paper

NM_001197104.2

p.E856fs

c.2566_2567fs

1 paper

NM_001197104.2

p.P855L

c.2564C>T

1 paper

NM_001197104.2

p.E857*

c.2569G>T

1 paper

NM_001197104.2

p.A854T

c.2560G>A

1 paper

NM_001197104.2

p.P855insFs

c.2565dupC

9 papers

NM_001197104.2

p.L858R

c.2573T>G

1 paper

NM_001197104.2

p.S859delFs

c.2576_2577delCC

1 paper

NM_001197104.2

p.D852G

c.2555A>G

1 paper

NM_001197104.2

p.K860fs

c.2578_2579fs

3 papers

NM_001197104.2

p.K851delFs

c.2552_2553delAA

2 papers

NM_001197104.2

p.R862*

c.2584C>T

1 paper

NM_001197104.2

p.G848G

c.2544G>C