Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.T819I

UNC13D

444 papers

RefSeq Summary

This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other...

Pfam Domains

C2aa 112–223UCSCC2 domain
MUNaa 554–893UCSCMUN domain
C2aa 925–1039UCSCC2 domain

Gene Aliases

HGNC Name

unc-13 homolog D

HGNC Alias Symbol

Munc13-4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199242.3
p.T819I
c.2456C>T
Surrounding Variants
1 paper
NM_199242.3
p.L820R
c.2459T>G
1 paper
NM_199242.3
p.L817H
c.2450T>A
2 papers
NM_199242.3
p.L817fs
c.2449_2450fs
1 paper
NM_199242.3
p.T825P
c.2473A>C
2 papers
NM_199242.3
p.L826fs
c.2476_2477fs
8 papers
NM_199242.3
p.S816Splc
c.2448-13G>A
2 papers
NM_199242.3
p.L826fs
c.2476_2477fs
6 papers
NM_199242.3
p.L826_T827delFs
c.2477_2480del4
1 paper
NM_199242.3
p.L829fs
c.2485_2486fs
1 paper
NM_199242.3
p.L829delFs
c.2485delG
1 paper
NM_199242.3
p.L829fs
c.2485_2486fs
1 paper
NM_199242.3
p.E831K
c.2491G>A
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