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.I1006delFs

c.3017_3018delTA

Surrounding Variants

1 paper

NM_001197104.2

p.S1005T

c.3013T>A

1 paper

NM_001197104.2

p.G1007delFs

c.3019delG

4 papers

NM_001197104.2

p.G1007C

c.3019G>T

1 paper

NM_001197104.2

p.G1007fs

c.3019_3020fs

1 paper

NM_001197104.2

p.S1008insFs

c.3022_3023dupTC

1 paper

NM_001197104.2

p.G1007G

c.3021C>A

1 paper

NM_001197104.2

p.G1007G

c.3021C>T

1 paper

NM_001197104.2

p.T1003S

c.3008C>G

1 paper

NM_001197104.2

p.T1003S

c.3007A>T

1 paper

NM_001197104.2

p.S1008F

c.3023C>T

2 papers

NM_001197104.2

p.M1009fs

c.3025_3026fs

1 paper

NM_001197104.2

p.L1010_A1013del0

c.3030_3038del9