Varaico: Literature-Extracted Genetic Variants

Gene:CD163L1
Variant:p.G421E

CD163L1

135 papers

RefSeq Summary

This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immun...

Pfam Domains

SRCRaa 51–148UCSCScavenger receptor cysteine-rich domain
SRCRaa 158–255UCSCScavenger receptor cysteine-rich domain
SRCRaa 158–255UCSCScavenger receptor cysteine-rich domain
SRCRaa 265–362UCSCScavenger receptor cysteine-rich domain
SRCRaa 265–362UCSCScavenger receptor cysteine-rich domain
SRCRaa 372–469UCSCScavenger receptor cysteine-rich domain

Gene Aliases

HGNC Name

CD163 molecule like 1

HGNC Alias Symbols

M160; CD163B; SCARI2; WC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001297650.2
p.G421E
c.1262G>A
Surrounding Variants
1 paper
NM_174941.6
p.E401K
c.1201G>A
1 paper
NM_174941.6
p.E427G
c.1280A>G
1 paper
NM_174941.6
p.H387R
c.1160A>G
1 paper
NM_174941.6
p.S435R
c.1305C>A
2 papers
NM_174941.6
p.I436K
c.1307T>A
1 paper
NM_174941.6
p.G374G
c.1122A>G
1 paper
NM_174941.6
p.R460Q
c.1379G>A
1 paper
NM_174941.6
p.A464T
c.1390G>A
2 papers
NM_174941.6
p.V357M
c.1069G>A
1 paper
NM_174941.6
p.L352fs
c.1054_1055fs
1 paper
NM_174941.6
p.L352delFs
c.1054_1055delAG
1 paper
NM_174941.6
p.V347I
c.1039G>A
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