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.E883*

c.2647G>T

Surrounding Variants

1 paper

NM_001197104.2

p.K882E

c.2644A>G

3 papers

NM_001197104.2

p.E881*

c.2641G>T

1 paper

NM_001197104.2

p.R880*

c.2638A>T

1 paper

NM_001197104.2

p.E887*

c.2659G>T

1 paper

NM_001197104.2

p.E887fs

c.2659_2660fs

2 papers

NM_001197104.2

p.R878fs

c.2632_2633fs

1 paper

NM_001197104.2

p.D877D

c.2631C>T

1 paper

NM_001197104.2

p.S888L

c.2663C>T

2 papers

NM_001197104.2

p.R878delFs

c.2632_2633delCG

1 paper

NM_001197104.2

p.S888S

c.2664A>T

3 papers

NM_001197104.2

p.D877_R878delFs

c.2631_2634del4

4 papers

NM_001197104.2

p.D877fs

c.2629_2630fs