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.C1189R

c.3565T>C

Surrounding Variants

14 papers

NM_001197104.2

p.C1189Y

c.3566G>A

4 papers

NM_001197104.2

p.C1189F

c.3566G>T

1 paper

NM_001197104.2

p.C1189*

c.3567C>A

3 papers

NM_001197104.2

p.C1189W

c.3567C>G

2 papers

NM_001197104.2

p.Q1187P

c.3560A>C

4 papers

NM_001197104.2

p.Q1187L

c.3560A>T

3 papers

NM_001197104.2

p.K1186T

c.3557A>C

6 papers

NM_001197104.2

p.K1186E

c.3556A>G

1 paper

NM_001197104.2

p.K1185_K1186insFs

c.3555_3556insA

2 papers

NM_001197104.2

p.I1184T

c.3551T>C

1 paper

NM_001197104.2

p.I1184V

c.3550A>G

1 paper

NM_001197104.2

p.N1183I

c.3548A>T