Varaico: Literature-Extracted Genetic Variants

PALB2

2,283 papers

RefSeq Summary

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the st...

Pfam Domains

PALB2_WD40aa 542–889UCSCPartner and localizer of BRCA2 WD40 domain

PALB2_WD40aa 1039–1105UCSCPartner and localizer of BRCA2 WD40 domain

Gene Aliases

HGNC Name

partner and localizer of BRCA2

HGNC Alias Symbols

FLJ21816; FANCN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024675.4

p.S691N

c.2072G>A

Surrounding Variants

1 paper

NM_024675.4

p.S691delFs

c.2071delT

8 papers

NM_024675.4

p.Q692*

c.2074C>T

1 paper

NM_024675.4

p.Q692L

c.2075A>T

1 paper

NM_024675.4

p.Q692Q

c.2076G>A

1 paper

NM_024675.4

p.Q690*

c.2068C>T

1 paper

NM_024675.4

p.Q690_S691ins16

c.2068_2072ins48

1 paper

NM_024675.4

p.S689S

c.2067G>T

4 papers

NM_024675.4

p.S689S

c.2067G>A

1 paper

NM_024675.4

p.Q692delFs

c.2075_2076delCT

7 papers

NM_024675.4

p.S689L

c.2066C>T

1 paper

NM_024675.4

p.S689*

c.2066C>A

1 paper

NM_024675.4

p.H693R

c.2078A>G