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.R175S

c.525A>T

Surrounding Variants

1 paper

NM_024675.4

p.R175R

c.525A>G

1 paper

NM_024675.4

p.R175S

c.525A>C

1 paper

NM_024675.4

p.R175_L176insFs

c.525_526insC

1 paper

NM_024675.4

p.R175I

c.524G>T

2 papers

NM_024675.4

p.R175T

c.524G>C

6 papers

NM_024675.4

p.R175K

c.524G>A

4 papers

NM_024675.4

p.K174_R175delFs

c.522_523delTT

1 paper

NM_024675.4

p.L176L

c.526C>T

1 paper

NM_024675.4

p.L176V

c.526C>G

2 papers

NM_024675.4

p.L176I

c.526C>A

45 papers

NM_024675.4

p.S172_R175del4

c.514_524del12

1 paper

NM_024675.4

p.L176fs

c.526_527fs