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

3 papers

NM_001197104.2

p.Q2597*

c.7789C>T

Surrounding Variants

1 paper

NM_001197104.2

p.Q2597H

c.7791G>C

1 paper

NM_001197104.2

p.Q2597H

c.7791G>T

1 paper

NM_001197104.2

p.D2598V

c.7793A>T

1 paper

NM_001197104.2

p.L2601P

c.7802T>C

2 papers

NM_001197104.2

p.M2602delFs

c.7804delA

3 papers

NM_001197104.2

p.M2602fs

c.7804_7805fs

1 paper

NM_001197104.2

p.Q2592*

c.7774C>T

1 paper

NM_001197104.2

p.Y2591*

c.7773T>A

1 paper

NM_001197104.2

p.Y2591*

c.7773T>G

1 paper

NM_001197104.2

p.S2588R

c.7764T>A

1 paper

NM_001197104.2

p.P2607S

c.7819C>T

1 paper

NM_001197104.2

p.K2608N

c.7824A>C