Varaico: Literature-Extracted Genetic Variants

Gene:NCK1
Variant:p.E207D

NCK1

41 papers

RefSeq Summary

The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein invol...

Pfam Domains

SH3_1aa 8–53UCSCSH3 domain
SH3_1aa 112–157UCSCSH3 domain
SH3_1aa 196–244UCSCSH3 domain
SH2aa 282–356UCSCSH2 domain

Gene Aliases

HGNC Name

NCK adaptor protein 1

HGNC Alias Symbol

NCKalpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001291999.2
p.E207D
c.621A>C
Surrounding Variants
1 paper
NM_001291999.2
p.E207D
c.621A>T
1 paper
NM_001291999.2
p.L209F
c.625C>T
1 paper
NM_001291999.2
p.N205D
c.613A>G
1 paper
NM_001291999.2
p.E212K
c.634G>A
1 paper
NM_001291999.2
p.S202T
c.605G>C
1 paper
NM_001291999.2
p.P200S
c.598C>T
1 paper
NM_001291999.2
p.D226N
c.676G>A
1 paper
NM_001291999.2
p.W230*
c.689G>A
1 paper
NM_001291999.2
p.W230*
c.690G>A
1 paper
NM_001291999.2
p.N184S
c.551A>G
2 papers
NM_001291999.2
p.V183I
c.547G>A
4 papers
NM_001291999.2
p.A180V
c.539C>T
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