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.L760L

c.2280T>G

Surrounding Variants

1 paper

NM_024675.4

p.L760delFs

c.2280delA

1 paper

NM_024675.4

p.L760I

c.2278C>A

1 paper

NM_024675.4

p.A761_H762insFs

c.2283_2284ins17

3 papers

NM_024675.4

p.Q759Q

c.2277A>G

2 papers

NM_024675.4

p.H762fs

c.2284_2285fs

3 papers

NM_024675.4

p.C756_A761insFs

c.2267_2283dup17

2 papers

NM_024675.4

p.Q759delFs

c.2275delG

3 papers

NM_024675.4

p.Q759*

c.2275C>T

2 papers

NM_024675.4

p.Q759K

c.2275C>A

6 papers

NM_024675.4

p.T757_P758del2

c.2269_2273del6

2 papers

NM_024675.4

p.C755_P758del4

c.2263_2273del12

1 paper

NM_024675.4

p.H762R

c.2285A>G