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.V1163_P1164del2

c.3487_3491del6

Surrounding Variants

1 paper

NM_001197104.2

p.Q1162insFs

c.3484_3485dupCA

2 papers

NM_001197104.2

p.P1164S

c.3490C>T

4 papers

NM_001197104.2

p.C1161Y

c.3482G>A

1 paper

NM_001197104.2

p.C1161S

c.3482G>C

1 paper

NM_001197104.2

p.C1161S

c.3481T>A

10 papers

NM_001197104.2

p.C1161G

c.3481T>G

1 paper

NM_001197104.2

p.G1160D

c.3479G>A

1 paper

NM_001197104.2

p.G1160S

c.3478G>A

1 paper

NM_001197104.2

p.G1160fs

c.3478_3479fs

1 paper

NM_001197104.2

p.E1165D

c.3495G>C

1 paper

NM_001197104.2

p.E1165D

c.3495G>T

3 papers

NM_001197104.2

p.D1166A

c.3497A>C