Varaico: Literature-Extracted Genetic Variants

UNC13A

251 papers

RefSeq Summary

This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphis...

Pfam Domains

C2aa 2–99UCSCC2 domain

C1_1aa 554–606UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C2aa 676–785UCSCC2 domain

MUNaa 994–1512UCSCMUN domain

C2aa 1545–1655UCSCC2 domain

Gene Aliases

HGNC Name

unc-13 homolog A

HGNC Alias Symbols

KIAA1032; Munc13-1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 343 variants

13 papers

NM_001080421.3

p.P814L

c.2441C>T

9 papers

NM_001080421.3

p.Q102*

c.304C>T

6 papers

NM_001080421.3

p.K32E

c.94A>G

5 papers

NM_001080421.3

p.P1027L

c.3080C>T

5 papers

NM_001080421.3

p.L1034P

c.3101T>C

4 papers

NM_001080421.3

p.E137K

c.409G>A

4 papers

NM_001080421.3

p.P956L

c.2867C>T

3 papers

NM_001080421.3

p.E52K

c.154G>A

3 papers

NM_001080421.3

p.T61M

c.182C>T

3 papers

NM_001080421.3

p.R86H

c.257G>A

3 papers

NM_001080421.3

p.E128K

c.382G>A

3 papers

NM_001080421.3

p.E247K

c.739G>A