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

2 papers

NM_024675.4

p.K85R

c.254A>G

Surrounding Variants

2 papers

NM_024675.4

p.K85I

c.254A>T

2 papers

NM_024675.4

p.K85T

c.254A>C

1 paper

NM_024675.4

p.D80_K85delFs

c.240_253del14

1 paper

NM_024675.4

p.K85N

c.255A>T

1 paper

NM_024675.4

p.K85E

c.253A>G

1 paper

NM_024675.4

p.K85N

c.255A>C

1 paper

NM_024675.4

p.K85Q

c.253A>C

1 paper

NM_024675.4

p.K85fs

c.253_254fs

1 paper

NM_024675.4

p.I84_K85del1

c.252_254delTTG

1 paper

NM_024675.4

p.I84M

c.252C>G

1 paper

NM_024675.4

p.T86S

c.256A>T

1 paper

NM_024675.4

p.T86A

c.256A>G