Varaico: Literature-Extracted Genetic Variants

Gene:FAM193A
Variant:p.G801R

FAM193A

36 papers

Pfam Domains

FAM193A_Naa 292–463UCSCFAM193A N-terminal domain
FAM193_Caa 1458–1514UCSCFAM193 family C-terminal

Gene Aliases

HGNC Name

family with sequence similarity 193 member A

HGNC Previous Symbol

C4orf8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003704.4
p.G801R
c.2401G>A
Surrounding Variants
1 paper
NM_003704.4
p.G801R
c.2401G>C
1 paper
NM_001366318.2
p.P1026S
c.3076C>T
1 paper
NM_001366318.2
p.K1115E
c.3343A>G
1 paper
NM_001366318.2
p.E1118*
c.3352G>T
1 paper
NM_001366318.2
p.M1124delFs
c.3370delA
1 paper
NM_001366318.2
p.E1140*
c.3418G>T
1 paper
NM_001366318.2
p.Q1167R
c.3500A>G
1 paper
NM_001366318.2
p.V937M
c.2809G>A
1 paper
NM_001366318.2
p.V926M
c.2776G>A
1 paper
NM_001366318.2
p.S908_S909del1
c.2724_2726delCTC
1 paper
NM_001366318.2
p.S904_S905del1
c.2712_2714delATC
1 paper
NM_001366318.2
p.S904_S905del2
c.2710_2714del6
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