Varaico: Literature-Extracted Genetic Variants

SPOCK1

53 papers

RefSeq Summary

This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine...

Pfam Domains

Kazal_2aa 134–180UCSCKazal-type serine protease inhibitor domain

SPARC_Ca_bdgaa 195–304UCSCSecreted protein acidic and rich in cysteine Ca binding region

Thyroglobulin_1aa 313–376UCSCThyroglobulin type-1 repeat

Gene Aliases

HGNC Name

SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1

HGNC Previous Symbol

TIC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004598.4

p.F237L

c.711T>A

Surrounding Variants

1 paper

NM_004598.4

p.F237L

c.711T>G

1 paper

NM_004598.4

p.F237L

c.709T>C

1 paper

NM_004598.4

p.L264P

c.791T>C

1 paper

NM_004598.4

p.D265Y

c.793G>T

1 paper

NM_004598.4

p.P266S

c.796C>T

1 paper

NM_004598.4

p.E268K

c.802G>A

1 paper

NM_004598.4

p.E278Q

c.832G>C

1 paper

NM_004598.4

p.E278K

c.832G>A

1 paper

NM_004598.4

p.L284L

c.852T>G

1 paper

NM_004598.4

p.S287L

c.860C>T

1 paper

NM_004598.4

p.Q314delins

c.941_942delinsAA

1 paper

NM_004598.4

p.P227S

c.679C>T