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.R2207W

c.6619C>T

Surrounding Variants

1 paper

NM_001197104.2

p.S2204*

c.6611C>A

1 paper

NM_001197104.2

p.S2204*

c.6611C>G

1 paper

NM_001197104.2

p.L2203S

c.6608T>C

1 paper

NM_001197104.2

p.R2211W

c.6631C>T

1 paper

NM_001197104.2

p.R2211Q

c.6632G>A

1 paper

NM_001197104.2

p.S2201S

c.6603T>A

3 papers

NM_001197104.2

p.M2213delFs

c.6637delA

1 paper

NM_005933.4

p.S2199delFs

c.6595delT

4 papers

NM_001197104.2

p.M2213fs

c.6637_6638fs

1 paper

NM_001197104.2

p.M2213K

c.6638T>A

1 paper

NM_001197104.2

p.S2199fs

c.6595_6596fs

1 paper

NM_001197104.2

p.P2215fs

c.6643_6644fs