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

3 papers

NM_024675.4

p.S1084*

c.3251C>A

Surrounding Variants

11 papers

NM_024675.4

p.S1084L

c.3251C>T

1 paper

NM_024675.4

p.S1084S

c.3252G>C

4 papers

NM_024675.4

p.S1084S

c.3252G>A

1 paper

NM_024675.4

p.L1085L

c.3253T>C

10 papers

NM_024675.4

p.E1083D

c.3249G>T

10 papers

NM_024675.4

p.E1083D

c.3249G>C

2 papers

NM_024675.4

p.E1083E

c.3249G>A

1 paper

NM_024675.4

p.K1080_E1083delFs

c.3238_3248del11

1 paper

NM_024675.4

p.S1082_E1083delFs

c.3246_3247delCA

1 paper

NM_024675.4

p.E1083insFs

c.3247_3248insT

7 papers

NM_024675.4

p.E1083K

c.3247G>A

1 paper

NM_024675.4

p.S1082_E1083Fs

c.3245_3247delinsTGATFs