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.P3057fs

c.9169_9170fs

Surrounding Variants

1 paper

NM_001197104.2

p.P3057delFs

c.9169delC

1 paper

NM_001197104.2

p.S3056I

c.9167G>T

1 paper

NM_001197104.2

p.G3058S

c.9172G>A

1 paper

NM_001197104.2

p.D3055H

c.9163G>C

1 paper

NM_001197104.2

p.P3059L

c.9176C>T

1 paper

NM_001197104.2

p.Q3061R

c.9182A>G

1 paper

NM_001197104.2

p.I3062T

c.9185T>C

1 paper

NM_001197104.2

p.N3046T

c.9137A>C

1 paper

NM_001197104.2

p.N3046fs

c.9136_9137fs

1 paper

NM_001197104.2

p.N3046_K3048delFs

c.9138_9142del5

2 papers

NM_001197104.2

p.Q3045*

c.9133C>T

1 paper

NM_001197104.2

p.L3074_K3075del2

c.9220_9224del6