Varaico: Literature-Extracted Genetic Variants

Gene:ACTL7A
Variant:p.L378_S379del2

ACTL7A

62 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an acti...

Pfam Domains

ACTL7A_Naa 1–65UCSCActin-like protein 7A N-terminus
Actinaa 66–435UCSCActin

Gene Aliases

HGNC Name

actin like 7A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006687.4
p.L378_S379del2
c.1132_1136del6
Surrounding Variants
1 paper
NM_006687.4
p.L378P
c.1133T>C
3 papers
NM_006687.4
p.R373H
c.1118G>A
2 papers
NM_006687.4
p.R373C
c.1117C>T
1 paper
NM_006687.4
p.N384S
c.1151A>G
1 paper
NM_006687.4
p.S368fs
c.1102_1103fs
1 paper
NM_006687.4
p.L367insFs
c.1101dupC
1 paper
NM_006687.4
p.S364fs
c.1090_1091fs
7 papers
NM_006687.4
p.G362R
c.1084G>A
5 papers
NM_006687.4
p.G362R
c.1084G>C
1 paper
NM_006687.4
p.G363insFs
c.1088dupG
1 paper
NM_006687.4
p.N357insFs
c.1069_1070insAC
2 papers
NM_006687.4
p.G402S
c.1204G>A
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