Varaico: Literature-Extracted Genetic Variants

Gene:PAM16
Variant:p.E72G

PAM16

23 papers

RefSeq Summary

This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial...

Pfam Domains

Pam16aa 1–125UCSCPam16

Gene Aliases

HGNC Name

presequence translocase associated motor 16

HGNC Alias Symbols

Magmas; Tim16; TIMM16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016069.11
p.E72G
c.215A>G
Surrounding Variants
5 papers
NM_016069.11
p.Q74P
c.221A>C
1 paper
NM_016069.11
p.Q61K
c.181C>A
1 paper
NM_016069.11
p.S49C
c.146C>G
2 papers
NM_016069.11
p.R44Q
c.131G>A
1 paper
NM_016069.11
p.A35T
c.103G>A
2 papers
NM_016069.11
p.K75_N76Splc
c.226-1G>C
6 papers
NM_016069.11
p.N76D
c.226A>G
1 paper
NM_016069.11
p.L94Q
c.281T>A
1 paper
NM_016069.11
p.S96fs
c.286_287fs
1 paper
NM_016069.11
p.Q95_S96delFs
c.285_288del4
1 paper
NM_016069.11
p.R22W
c.64C>T
1 paper
NM_016069.11
p.M1_A2Splc
c.3+1G>T
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