Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.I848L

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
9 papers
NM_199242.3
p.I848L
c.2542A>C
Surrounding Variants
2 papers
NM_199242.3
p.I848fs
c.2542_2543fs
1 paper
NM_199242.3
p.I848V
c.2542A>G
2 papers
NM_199242.3
p.I848delFs
c.2544delA
1 paper
NM_199242.3
p.L850R
c.2549T>G
5 papers
NM_199242.3
p.Q851_N852Splc
c.2553+5C>G
1 paper
NM_199242.3
p.Q836H
c.2508G>T
1 paper
NM_199242.3
p.Q836H
c.2508G>C
2 papers
NM_199242.3
p.A832V
c.2495C>T
1 paper
NM_199242.3
p.E831K
c.2491G>A
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
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