Varaico: Literature-Extracted Genetic Variants

Gene:CD163L1
Variant:p.H129Q

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_174941.6
p.H129Q
c.387C>G
Surrounding Variants
1 paper
NM_174941.6
p.H129Q
c.387C>A
1 paper
NM_174941.6
p.R130L
c.389G>T
1 paper
NM_174941.6
p.E126Q
c.376G>C
2 papers
NM_174941.6
p.G119R
c.355G>C
2 papers
NM_174941.6
p.G119R
c.355G>A
1 paper
NM_174941.6
p.Y148*
c.444T>G
3 papers
NM_174941.6
p.Y148Y
c.444T>C
1 paper
NM_174941.6
p.Y148*
c.444T>A
1 paper
NM_174941.6
p.R99C
c.295C>T
1 paper
NM_174941.6
p.R99S
c.295C>A
1 paper
NM_174941.6
p.W77*
c.231G>A
1 paper
NM_174941.6
p.W77*
c.230G>A
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