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.E2908fs

c.8722_8723fs

Surrounding Variants

1 paper

NM_001197104.2

p.E2908delFs

c.8724delA

1 paper

NM_001197104.2

p.S2912S

c.8736T>C

1 paper

NM_001197104.2

p.Q2902*

c.8704C>T

1 paper

NM_001197104.2

p.S2901Y

c.8702C>A

1 paper

NM_001197104.2

p.S2901F

c.8702C>T

1 paper

NM_001197104.2

p.F2900V

c.8698T>G

1 paper

NM_001197104.2

p.S2919*

c.8756C>A

1 paper

NM_001197104.2

p.S2919*

c.8756C>G

1 paper

NM_001197104.2

p.G2895S

c.8683G>A

1 paper

NM_001197104.2

p.G2895fs

c.8683_8684fs

1 paper

NM_001197104.2

p.G2895fs

c.8683_8684fs

2 papers

NM_001197104.2

p.G2895delFs

c.8683_8684delGG