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.L3271fs

c.9811_9812fs

Surrounding Variants

1 paper

NM_001197104.2

p.H3268R

c.9803A>G

1 paper

NM_001197104.2

p.N3267T

c.9800A>C

1 paper

NM_001197104.2

p.P3266A

c.9796C>G

1 paper

NM_001197104.2

p.Q3264K

c.9790C>A

1 paper

NM_001197104.2

p.P3262S

c.9784C>T

1 paper

NM_001197104.2

p.S3280*

c.9839C>A

1 paper

NM_001197104.2

p.H3282Y

c.9844C>T

1 paper

NM_001197104.2

p.F3260I

c.9778T>A

2 papers

NM_001197104.2

p.R3283*

c.9847C>T

1 paper

NM_001197104.2

p.R3283Q

c.9848G>A

1 paper

NM_001197104.2

p.L3257S

c.9770T>C

3 papers

NM_001197104.2

p.P3286delFs

c.9857_9858delCC