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

1 paper

NM_007294.4

p.Q1069_E1071ins1

c.3207_3212dup6

Surrounding Variants

1 paper

NM_007294.4

p.L1072I

c.3214C>A

1 paper

NM_007294.4

p.L1072fs

c.3214_3215fs

2 papers

NM_007294.4

p.L1072P

c.3215T>C

31 papers

NM_007294.4

p.L1072delFs

c.3214delG

1 paper

NM_007294.4

p.E1071insFs

c.3211_3212dupGA

2 papers

NM_007294.4

p.E1071G

c.3212A>G

1 paper

NM_007294.4

p.L1072L

c.3216A>G

6 papers

NM_007294.4

p.L1072fs

c.3214_3215fs

2 papers

NM_007294.4

p.E1071*

c.3211G>T

1 paper

NM_007294.4

p.G1073C

c.3217G>T

2 papers

NM_007294.4

p.G1073R

c.3217G>C

8 papers

NM_007294.4

p.E1071K

c.3211G>A