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

6 papers

NM_001197104.2

p.S2565_E2566delFs

c.7695_7696delTG

Surrounding Variants

1 paper

NM_001197104.2

p.S2565fs

c.7693_7694fs

1 paper

NM_001197104.2

p.E2566fs

c.7696_7697fs

2 papers

NM_001197104.2

p.E2566fs

c.7696_7697fs

1 paper

NM_001197104.2

p.P2568S

c.7702C>T

1 paper

NM_001197104.2

p.I2562_S2563delFs

c.7686_7687delTT

1 paper

NM_001197104.2

p.T2559I

c.7676C>T

1 paper

NM_001197104.2

p.T2556I

c.7667C>T

1 paper

NM_001197104.2

p.P2576_S2577delFs

c.7726_7729del4

1 paper

NM_001197104.2

p.P2576_S2577del2

c.7726_7730del6

2 papers

NM_001197104.2

p.Q2552_I2553del2

c.7654_7658del6

1 paper

NM_001197104.2

p.P2550R

c.7649C>G

1 paper

NM_001197104.2

p.Q2584*

c.7750C>T