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.L3304fs

c.9910_9911fs

Surrounding Variants

1 paper

NM_001197104.2

p.L3304delFs

c.9910_9911delCT

2 papers

NM_001197104.2

p.L3305insFs

c.9915dupA

3 papers

NM_001197104.2

p.P3306fs

c.9916_9917fs

1 paper

NM_001197104.2

p.Q3307delFs

c.9921delG

1 paper

NM_001197104.2

p.S3308fs

c.9922_9923fs

1 paper

NM_001197104.2

p.S3295G

c.9883A>G

1 paper

NM_001197104.2

p.A3313V

c.9938C>T

1 paper

NM_001197104.2

p.S3294F

c.9881C>T

1 paper

NM_001197104.2

p.A3316V

c.9947C>T

2 papers

NM_001197104.2

p.R3291I

c.9872G>T

1 paper

NM_001197104.2

p.T3321I

c.9962C>T

2 papers

NM_001197104.2

p.P3286fs

c.9856_9857fs