Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEACAM6

CEACAM6

58 papers

RefSeq Summary

This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family...

Pfam Domains

V-setaa 38–141UCSCImmunoglobulin V-set domain

Ig_3aa 146–219UCSCImmunoglobulin domain

Ig_2aa 239–318UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

CEA cell adhesion molecule 6

HGNC Previous Symbol

NCA

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 35 variants

6 papers

chr19:41761981 T>G

NM_002483.7

p.V239G

c.716T>G

Ig_2

Exome: 56.7% (AC=828233, hom=237178)Genome: 48.8% (AC=73878, hom=19200)16 overlapping SVs

2 papers

chr19:41762212 T>A

NM_002483.7

p.I316N

c.947T>A

Ig_2

Exome: 0.1% (AC=1301, hom=1)Genome: 0.1% (AC=141, hom=0)16 overlapping SVs

1 paper

chr19:41755660 C>T

NM_002483.7

p.P8S

c.22C>T

Exome: n/aGenome: 0.0% (AC=6, hom=0)17 overlapping SVs

1 paper

chr19:41756630 C>T

NM_002483.7

p.T32I

c.95C>T

Exome: 0.0% (AC=344, hom=0)Genome: 0.0% (AC=10, hom=0)17 overlapping SVs

1 paper

chr19:41756658 G>A

NM_002483.7

p.T41T

c.123G>A

V-set

Exome: 0.0% (AC=64, hom=0)Genome: 0.0% (AC=11, hom=0)17 overlapping SVs

1 paper

chr19:41756661 G>A

NM_002483.7

p.P42P

c.126G>A

V-set

Exome: 29.2% (AC=427155, hom=63438)Genome: 25.9% (AC=39399, hom=5478)17 overlapping SVs

1 paper

chr19:41756698 G>T

NM_002483.7

p.A55S

c.163G>T

V-set

exact variant not in gnomAD17 overlapping SVs

1 paper

chr19:41756707 C>A

NM_002483.7

p.L58M

c.172C>A

V-set

exact variant not in gnomAD17 overlapping SVs

1 paper

chr19:41756711 C>T

NM_002483.7

p.P59L

c.176C>T

V-set

Exome: 0.0% (AC=2, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr19:41756725 G>A

NM_002483.7

p.G64S

c.190G>A

V-set

exact variant not in gnomAD17 overlapping SVs

1 paper

chr19:41756729 A>G

NM_002483.7

p.Y65C

c.194A>G

V-set

Exome: 0.0% (AC=1, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr19:41756755 G>A

NM_002483.7

p.D74N

c.220G>A

V-set

Exome: n/aGenome: 0.0% (AC=2, hom=0)17 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."