Varaico: Literature-Extracted Genetic Variants

Gene:NECAP2
Variant:p.M54_I57del0

NECAP2

26 papers

RefSeq Summary

This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced ...

Pfam Domains

DUF1681aa 6–163UCSCProtein of unknown function (DUF1681)

Gene Aliases

HGNC Name

NECAP endocytosis associated 2

HGNC Alias Symbol

FLJ10420

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018090.5
p.M54_I57del0
c.162_170del9
Surrounding Variants
1 paper
NM_018090.5
p.M54_I57del4
c.160_170del12
1 paper
NM_018090.5
p.L46M
c.136C>A
1 paper
NM_018090.5
p.W35L
c.104G>T
1 paper
NM_018090.5
p.A32D
c.95C>A
1 paper
NM_018090.5
p.G65Splc
c.193+122G>A
1 paper
NM_018090.5
p.V18_Y19delFs
c.54_57del4
1 paper
NM_018090.5
p.V16A
c.47T>C
1 paper
NM_018090.5
p.G5fs
c.13_14fs
1 paper
NM_018090.5
p.G5delFs
c.13_14delGG
1 paper
NM_018090.5
p.E3D
c.9G>C
1 paper
NM_018090.5
p.E3D
c.9G>T
1 paper
NM_018090.5
p.E3insFs
c.8_9insT
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."