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.R945G

c.2833A>G

Surrounding Variants

1 paper

NM_024675.4

p.R945W

c.2833A>T

3 papers

NM_024675.4

p.I944delFs

c.2832delG

1 paper

NM_024675.4

p.R945M

c.2834G>T

3 papers

NM_024675.4

p.R945T

c.2834G>C

1 paper

NM_024675.4

p.R945K

c.2834G>A

1 paper

NM_024675.4

p.I944M

c.2832C>G

1 paper

NM_024675.4

p.I944S

c.2831T>G

1 paper

NM_024675.4

p.I944T

c.2831T>C

12 papers

NM_024675.4

p.I944N

c.2831T>A

2 papers

NM_024675.4

p.E943_I944delFs

c.2827_2830del4

4 papers

NM_024675.4

p.R945Splc

c.2834+1G>T

2 papers

NM_024675.4

p.R945Splc

c.2834+1G>C