Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R11C

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.R11C
c.31C>T
Surrounding Variants
1 paper
NM_199242.3
p.R11G
c.31C>G
1 paper
NM_199242.3
p.L4_Q10delFs
c.10_28del19
2 papers
NM_199242.3
p.Q10*
c.28C>T
1 paper
NM_199242.3
p.R16P
c.47G>C
1 paper
NM_199242.3
p.L4delFs
c.12delG
1 paper
NM_199242.3
p.A18T
c.52G>A
3 papers
NM_199242.3
p.L4F
c.10C>T
1 paper
NM_199242.3
p.T3T
c.9A>G
1 paper
NM_199242.3
p.T3insFs
c.8_9insC
1 paper
NM_199242.3
p.M1_A2del2
c.1_5del6
1 paper
NM_199242.3
p.T3insFs
c.7_8insC
3 papers
NM_199242.3
p.A2V
c.5C>T
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