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.A824S

c.2470G>T

Surrounding Variants

1 paper

NM_001197104.2

p.P823P

c.2469G>T

1 paper

NM_001197104.2

p.P823L

c.2468C>T

1 paper

NM_001197104.2

p.S821fs

c.2461_2462fs

1 paper

NM_001197104.2

p.S821G

c.2461A>G

1 paper

NM_001197104.2

p.F827I

c.2479T>A

2 papers

NM_001197104.2

p.S821insFs

c.2461dupA

6 papers

NM_001197104.2

p.Q819*

c.2455C>T

2 papers

NM_001197104.2

p.K818*

c.2452A>T

1 paper

NM_001197104.2

p.P832R

c.2495C>G

1 paper

NM_001197104.2

p.T833S

c.2497A>T

1 paper

NM_001197104.2

p.T833S

c.2498C>G

1 paper

NM_001197104.2

p.T833I

c.2498C>T