Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_007294.4

p.P58H

c.173C>A

Surrounding Variants

7 papers

NM_007294.4

p.P58L

c.173C>T

7 papers

NM_007294.4

p.P58R

c.173C>G

1 paper

NM_007294.4

p.Q54_G57del4

c.160_170del12

1 paper

NM_007294.4

p.P58insFs

c.173dupC

1 paper

NM_007294.4

p.P58insFs

c.173_174ins16

3 papers

NM_007294.4

p.P58fs

c.172_173fs

1 paper

NM_007294.4

p.P58P

c.174T>G

1 paper

NM_007294.4

p.P58P

c.174T>C

3 papers

NM_007294.4

p.P58P

c.174T>A

1 paper

NM_007294.4

p.P58delFs

c.172delG

3 papers

NM_007294.4

p.P58fs

c.172_173fs

10 papers

NM_007294.4

p.P58S

c.172C>T