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

4 papers

NM_024675.4

p.R1086G

c.3256C>G

Surrounding Variants

70 papers

NM_024675.4

p.R1086*

c.3256C>T

1 paper

NM_024675.4

p.L1085insFs

c.3255dupG

1 paper

NM_024675.4

p.R1086R

c.3256C>A

2 papers

NM_024675.4

p.R1086Q

c.3257G>A

3 papers

NM_024675.4

p.R1086delFs

c.3256delG

2 papers

NM_024675.4

p.R1086R

c.3258A>T

3 papers

NM_024675.4

p.R1086fs

c.3256_3257fs

1 paper

NM_024675.4

p.L1085L

c.3253T>C

1 paper

NM_024675.4

p.E1083_R1086del0

c.3247_3258del12

1 paper

NM_024675.4

p.P1077_R1086del0

c.3229_3258del30

2 papers

NM_024675.4

p.S1087I

c.3260G>T

1 paper

NM_024675.4

p.S1084S

c.3252G>C