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.G77_A78insG

c.229_233ins3

Surrounding Variants

1 paper

NM_001197104.2

p.G76G

c.228G>A

1 paper

NM_001197104.2

p.G77G

c.231A>G

2 papers

NM_001197104.2

p.G76A

c.227G>C

1 paper

NM_001197104.2

p.G76R

c.226G>A

1 paper

NM_001197104.2

p.G76R

c.226G>C

1 paper

NM_001197104.2

p.G76W

c.226G>T

1 paper

NM_001197104.2

p.P75_G76insFs

c.225_226insAC

1 paper

NM_001197104.2

p.P75P

c.225A>G

1 paper

NM_001197104.2

p.A79insFs

c.235dupG

1 paper

NM_001197104.2

p.P75L

c.224C>T

2 papers

NM_001197104.2

p.P75S

c.223C>T

1 paper

NM_001197104.2

p.A79delFs

c.236delC