Varaico: Literature-Extracted Genetic Variants

Gene:SH3GL1
Variant:p.P304L

SH3GL1

52 papers

RefSeq Summary

This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpress...

Pfam Domains

BARaa 6–242UCSCBAR domain
SH3_1aa 312–357UCSCSH3 domain

Gene Aliases

HGNC Name

SH3 domain containing GRB2 like 1, endophilin A2

HGNC Alias Symbols

SH3P8; SH3D2B; CNSA1; EEN; MGC111371

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003025.4
p.P304L
c.911C>T
Surrounding Variants
1 paper
NM_003025.4
p.P304S
c.910C>T
1 paper
NM_003025.4
p.P309L
c.926C>T
1 paper
NM_003025.4
p.S310N
c.929G>A
1 paper
NM_003025.4
p.Y315F
c.944A>T
1 paper
NM_001199943.2
p.G275R
c.823G>C
1 paper
NM_001199943.2
p.G275R
c.823G>A
1 paper
NM_003025.4
p.V332I
c.994G>A
1 paper
NM_003025.4
p.T334M
c.1001C>T
1 paper
NM_003025.4
p.L335Fs
c.1003delinsGAFs
1 paper
NM_003025.4
p.G350S
c.1048G>A
1 paper
NM_003025.4
p.L357P
c.1070T>C
1 paper
NM_003025.4
p.P304S
c.910C>T
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."