Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.K20M

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
14 papers
NM_199242.3
p.K20M
c.59A>T
Surrounding Variants
1 paper
NM_199242.3
p.K20delFs
c.59delT
1 paper
NM_199242.3
p.I21_R22Fs
c.62_65delinsGTCTTFs
1 paper
NM_199242.3
p.A18T
c.52G>A
1 paper
NM_199242.3
p.R23H
c.68G>A
1 paper
NM_199242.3
p.R24C
c.70C>T
1 paper
NM_199242.3
p.R16P
c.47G>C
1 paper
NM_199242.3
p.R24H
c.71G>A
1 paper
NM_199242.3
p.R23_R24delFs
c.68_71del4
1 paper
NM_199242.3
p.R25G
c.73A>G
1 paper
NM_199242.3
p.R23_D28delFs
c.67_83del17
1 paper
NM_199242.3
p.R11C
c.31C>T
1 paper
NM_199242.3
p.R11G
c.31C>G
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