Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HUS1B

HUS1B

34 papers

RefSeq Summary

The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can inter...

Pfam Domains

Hus1aa 1–278UCSCHus1-like protein

Gene Aliases

HGNC Name

HUS1 checkpoint clamp component B

HGNC Previous Names

HUS1 (S. pombe) checkpoint homolog b; HUS1 checkpoint homolog b (S. pombe)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 21 variants

7 papers

chr6:656555 G>C

NM_148959.4

p.H130Q

c.390C>G

Hus1

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

7 papers

chr6:656555 G>T

NM_148959.4

p.H130Q

c.390C>A

Hus1

Exome: 9.6% (AC=138384, hom=6942)Genome: 7.8% (AC=11874, hom=620)6 overlapping SVs

6 papers

chr6:656143 C>A

NM_148959.4

p.D268Y

c.802G>T

Hus1

Exome: 89.3% (AC=1304534, hom=587056)Genome: 77.9% (AC=118409, hom=48730)6 overlapping SVs

1 paper

chr6:656943 A>T

NM_148959.4

p.M1K

c.2T>A

Hus1

exact variant not in gnomAD7 overlapping SVs

1 paper

chr6:656875 C>T

NM_148959.4

p.A24T

c.70G>A

Hus1

Exome: 0.0% (AC=0, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr6:656869 G>T

NM_148959.4

p.L26I

c.76C>A

Hus1

exact variant not in gnomAD7 overlapping SVs

1 paper

chr6:656854 C>T

NM_148959.4

p.V31M

c.91G>A

Hus1

Exome: 0.0% (AC=0, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr6:656847 C>T

NM_148959.4

p.R33H

c.98G>A

Hus1

Exome: 0.0% (AC=125, hom=0)Genome: 0.0% (AC=5, hom=0)7 overlapping SVs

1 paper

chr6:656730 G>A

NM_148959.4

p.S72L

c.215C>T

Hus1

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr6:656680 G>A

NM_148959.4

p.R89W

c.265C>T

Hus1

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)6 overlapping SVs

1 paper

chr6:656619 C>T

NM_148959.4

p.R109H

c.326G>A

Hus1

Exome: 0.0% (AC=10, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr6:656578 C>A

NM_148959.4

p.G123C

c.367G>T

Hus1

Exome: 0.0% (AC=6, hom=0)Genome: n/a6 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."