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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRIP1

Variant:p.G70R

CRIP1

14 papers

RefSeq Summary

Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM...

Pfam Domains

LIMaa 4–61UCSCLIM domain

Gene Aliases

HGNC Name

cysteine rich protein 1

HGNC Previous Name

cysteine-rich protein 1 (intestinal)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr14:105488485 G>C

NM_001311.5

p.G70R

c.208G>C

exact variant not in gnomAD14 overlapping SVs

Surrounding Variants

1 paper

chr14:105488485 G>A

NM_001311.5

p.G70R

c.208G>A

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=4, hom=0)14 overlapping SVs

1 paper

chr14:105488482 G>GN

NM_001311.5

p.G69fs

c.205_206fs

exact variant not in gnomAD14 overlapping SVs

1 paper

chr14:105488368 C>T

NM_001311.5

p.A58V

c.173C>T

LIM

Exome: 22.4% (AC=326862, hom=39602)Genome: 16.4% (AC=24910, hom=2666)12 overlapping SVs

1 paper

chr14:105488350 G>T

NM_001311.5

p.C52F

c.155G>T

LIM

Exome: 1.0% (AC=14321, hom=129)Genome: 1.0% (AC=1524, hom=14)12 overlapping SVs

1 paper

chr14:105487305 C>T

NM_001311.5

p.A14Splc

c.40+6C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr14:105487261 T>C

NM_001311.5

p.M1T

c.2T>C

exact variant not in gnomAD12 overlapping SVs

1 paper

chr14:105487260 A>AT

NM_001311.5

p.M1insFs

c.2dupT

exact variant not in gnomAD12 overlapping SVs

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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."