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.K895delFs

c.2684delA

Surrounding Variants

1 paper

NM_001197104.2

p.R893K

c.2678G>A

1 paper

NM_001197104.2

p.R893fs

c.2677_2678fs

3 papers

NM_001197104.2

p.K895fs

c.2683_2684fs

4 papers

NM_001197104.2

p.K895R

c.2684A>G

2 papers

NM_001197104.2

p.E891D

c.2673G>C

2 papers

NM_001197104.2

p.E891D

c.2673G>T

1 paper

NM_001197104.2

p.E891_K892delFs

c.2673_2674delGA

1 paper

NM_001197104.2

p.S897L

c.2690C>T

1 paper

NM_001197104.2

p.E898D

c.2694A>C

1 paper

NM_001197104.2

p.S888S

c.2664A>T

1 paper

NM_001197104.2

p.E898D

c.2694A>T

1 paper

NM_001197104.2

p.S888L

c.2663C>T