Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L100P

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.L100P
c.299T>C
Surrounding Variants
1 paper
NM_199242.3
p.T99_L100delFs
c.297_298delGT
1 paper
NM_199242.3
p.L100fs
c.298_299fs
1 paper
NM_199242.3
p.R102L
c.305G>T
2 papers
NM_199242.3
p.R102R
c.306G>C
2 papers
NM_199242.3
p.Q98*
c.292C>T
1 paper
NM_199242.3
p.E95_H96del0
c.283_288del6
1 paper
NM_199242.3
p.E95_H96delFs
c.284_287del4
1 paper
NM_199242.3
p.H96Y
c.286C>T
1 paper
NM_199242.3
p.E95del1
c.283_285delCTC
1 paper
NM_199242.3
p.E95D
c.285G>T
1 paper
NM_199242.3
p.R104_E105insFs
c.312_313insG
5 papers
NM_199242.3
p.P93P
c.279C>T
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