Varaico: Literature-Extracted Genetic Variants

Gene:SSC5D
Variant:p.Q642*

SSC5D

102 papers

Pfam Domains

SRCRaa 23–120UCSCScavenger receptor cysteine-rich domain
SRCRaa 201–298UCSCScavenger receptor cysteine-rich domain
SRCRaa 307–404UCSCScavenger receptor cysteine-rich domain
SRCRaa 470–568UCSCScavenger receptor cysteine-rich domain
SRCRaa 775–872UCSCScavenger receptor cysteine-rich domain

Gene Aliases

HGNC Name

scavenger receptor cysteine rich family member with 5 domains

HGNC Alias Symbols

FLJ35258; S5D-SRCRB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001144950.2
p.Q642*
c.1924C>T
Surrounding Variants
1 paper
NM_001144950.2
p.T633fs
c.1897_1898fs
1 paper
NM_001144950.2
p.T633delFs
c.1898delC
1 paper
NM_001144950.2
p.P621T
c.1861C>A
1 paper
NM_001144950.2
p.T664I
c.1991C>T
1 paper
NM_001144950.2
p.R674*
c.2020C>T
1 paper
NM_001144950.2
p.A601D
c.1802C>A
1 paper
NM_001144950.2
p.A601V
c.1802C>T
1 paper
NM_001144950.2
p.H695P
c.2084A>C
1 paper
NM_001144950.2
p.P702S
c.2104C>T
1 paper
NM_001144950.2
p.R706*
c.2116C>T
1 paper
NM_001144950.2
p.L573_D574insC
c.1717_1721ins3
1 paper
NM_001144950.2
p.E723_M724insGG
c.2167_2171ins6
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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."