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.T2771I

c.8312C>T

Surrounding Variants

1 paper

NM_001197104.2

p.V2770A

c.8309T>C

1 paper

NM_001197104.2

p.V2775F

c.8323G>T

1 paper

NM_001197104.2

p.V2775A

c.8324T>C

1 paper

NM_001197104.2

p.N2779delFs

c.8336delA

1 paper

NM_001197104.2

p.N2779fs

c.8335_8336fs

1 paper

NM_001197104.2

p.N2779D

c.8335A>G

1 paper

NM_001197104.2

p.P2781S

c.8341C>T

1 paper

NM_001197104.2

p.K2782E

c.8344A>G

1 paper

NM_001197104.2

p.M2783delFs

c.8347delA

2 papers

NM_001197104.2

p.M2783fs

c.8347_8348fs

1 paper

NM_001197104.2

p.I2758T

c.8273T>C

1 paper

NM_001197104.2

p.I2758_D2759insFs

c.8274_8275insCT