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

2 papers

NM_001197104.2

p.P3286fs

c.9856_9857fs

Surrounding Variants

3 papers

NM_001197104.2

p.P3286delFs

c.9857_9858delCC

1 paper

NM_001197104.2

p.R3283Q

c.9848G>A

2 papers

NM_001197104.2

p.R3283*

c.9847C>T

1 paper

NM_001197104.2

p.H3282Y

c.9844C>T

2 papers

NM_001197104.2

p.R3291I

c.9872G>T

1 paper

NM_001197104.2

p.S3280*

c.9839C>A

1 paper

NM_001197104.2

p.S3294F

c.9881C>T

1 paper

NM_001197104.2

p.S3295G

c.9883A>G

1 paper

NM_001197104.2

p.L3271fs

c.9811_9812fs

1 paper

NM_001197104.2

p.H3268R

c.9803A>G

1 paper

NM_001197104.2

p.L3304delFs

c.9910_9911delCT

1 paper

NM_001197104.2

p.L3304fs

c.9910_9911fs