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.P58R

c.173C>G

Surrounding Variants

2 papers

NM_001197104.2

p.P58L

c.173C>T

2 papers

NM_001197104.2

p.P58fs

c.172_173fs

5 papers

NM_001197104.2

p.P58fs

c.172_173fs

1 paper

NM_001197104.2

p.A59S

c.175G>T

3 papers

NM_001197104.2

p.A59fs

c.175_176fs

1 paper

NM_001197104.2

p.P57R

c.170C>G

1 paper

NM_001197104.2

p.A59G

c.176C>G

1 paper

NM_001197104.2

p.P57L

c.170C>T

1 paper

NM_001197104.2

p.P57T

c.169C>A

1 paper

NM_001197104.2

p.P57S

c.169C>T

1 paper

NM_001197104.2

p.V60L

c.178G>C

1 paper

NM_001197104.2

p.V60L

c.178G>T