Varaico: Literature-Extracted Genetic Variants

Gene:TMCC1

TMCC1

40 papers

Pfam Domains

Tmemb_cc2aa 230–638UCSCPredicted transmembrane and coiled-coil 2 protein

Gene Aliases

HGNC Name

transmembrane and coiled-coil domain family 1

HGNC Alias Symbol

KIAA0779

Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
4 papers
NM_001017395.5
p.S165G
c.493A>G
2 papers
NM_001017395.5
p.G133delFs
c.397delC
2 papers
NM_001017395.5
p.A180_A181del1
c.540_542delGCA
2 papers
NM_001017395.5
p.A181del1
c.541_542delTGC
2 papers
NM_001017395.5
p.Q397del1
c.1189_1191delTTG
2 papers
NM_001017395.5
p.Q570del1
c.1708_1709delCTG
1 paper
NM_001017395.5
p.P13delFs
c.38_39delAG
1 paper
NM_001017395.5
p.K26M
c.77A>T
1 paper
NM_001017395.5
p.T38_H39del1
c.114_116delTGG
1 paper
NM_001017395.5
p.T38_H39del2
c.112_116del6
1 paper
NM_001017395.5
p.L52V
c.154T>G
1 paper
NM_001017395.5
p.P67ins1
c.200_201insTGC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."