Varaico: Literature-Extracted Genetic Variants

Gene:SSC5D
Variant:p.C241Fs

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.C241Fs
c.723delinsTGFs
Surrounding Variants
1 paper
NM_001144950.2
p.C241_G242insFs
c.723_724insGG
1 paper
NM_001144950.2
p.A244fs
c.730_731fs
1 paper
NM_001144950.2
p.R237Q
c.710G>A
1 paper
NM_001144950.2
p.P255R
c.764C>G
1 paper
NM_001144950.2
p.V222E
c.665T>A
1 paper
NM_001144950.2
p.H215R
c.644A>G
1 paper
NM_001144950.2
p.G268A
c.803G>C
1 paper
NM_001144950.2
p.R275*
c.823C>T
1 paper
NM_001144950.2
p.R197Q
c.590G>A
1 paper
NM_001144950.2
p.A293A
c.879G>A
1 paper
NM_001144950.2
p.G191_A192insFs
c.573_574insC
2 papers
NM_001144950.2
p.R161C
c.481C>T
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