Varaico: Literature-Extracted Genetic Variants

Gene:FAM186A
Variant:p.H2228Q

FAM186A

178 papers

Pfam Domains

FAM186A-B_Naa 39–281UCSCFAM186A/B, N-terminal
FAM186A_PQQAQaa 1065–1106UCSCFAM186A, PQQAQ repeat
FAM186A_PQQAQaa 1101–1142UCSCFAM186A, PQQAQ repeat
FAM186A_PQQAQaa 1137–1178UCSCFAM186A, PQQAQ repeat
FAM186A_PQQAQaa 1173–1214UCSCFAM186A, PQQAQ repeat
FAM186A_PQQAQaa 1209–1250UCSCFAM186A, PQQAQ repeat

Gene Aliases

HGNC Name

family with sequence similarity 186 member A

HGNC Alias Symbol

LOC121006

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001145475.3
p.H2228Q
c.6684C>G
Surrounding Variants
5 papers
NM_001145475.3
p.H2228Q
c.6684C>A
1 paper
NM_001145475.3
p.K2202fs
c.6604_6605fs
3 papers
NM_001145475.3
p.M2193I
c.6579G>T
3 papers
NM_001145475.3
p.M2193I
c.6579G>C
3 papers
NM_001145475.3
p.M2193I
c.6579G>A
1 paper
NM_001145475.3
p.R2174*
c.6520C>T
1 paper
NM_001145475.3
p.H2237Q
c.6711T>G
1 paper
NM_001145475.3
p.H2237Q
c.6711T>A
1 paper
NM_001145475.3
p.N2240K
c.6720T>G
1 paper
NM_001145475.3
p.N2240K
c.6720T>A
1 paper
NM_001145475.3
p.E2272Q
c.6814G>C
1 paper
NM_001145475.3
p.A2305A
c.6915A>T
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