Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB9

EFCAB9

7 papers

RefSeq Summary

This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a can...

Pfam Domains

EF-hand_7aa 105–166UCSCEF-hand domain pair

Gene Aliases

HGNC Name

EF-hand calcium binding domain 9

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001171183.2
p.L3fs
c.7_8fs
1 paper
NM_001171183.2
p.L3delFs
c.8delT
1 paper
NM_001171183.2
p.H39Q
c.117C>A
1 paper
NM_001171183.2
p.H39Q
c.117C>G
1 paper
NM_001171183.2
p.F49L
c.145T>C
1 paper
NM_001171183.2
p.F49L
c.147C>A
1 paper
NM_001171183.2
p.F49L
c.147C>G
1 paper
NM_001171183.2
p.A93V
c.278C>T
1 paper
NM_001171183.2
p.I122_A124delFs
c.365_371del7
1 paper
NM_001171183.2
p.R155C
c.463C>T
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