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

5 papers

NM_001197104.2

p.C1158Y

c.3473G>A

Surrounding Variants

4 papers

NM_001197104.2

p.C1158S

c.3473G>C

4 papers

NM_001197104.2

p.C1158S

c.3472T>A

1 paper

NM_001197104.2

p.C1158R

c.3472T>C

3 papers

NM_001197104.2

p.Q1157P

c.3470A>C

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.G1160D

c.3479G>A

1 paper

NM_001197104.2

p.C1161S

c.3481T>A

10 papers

NM_001197104.2

p.C1161G

c.3481T>G

13 papers

NM_001197104.2

p.C1155Y

c.3464G>A

4 papers

NM_001197104.2

p.C1161Y

c.3482G>A

3 papers

NM_001197104.2

p.C1155S

c.3464G>C