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.S1241delFs

c.3723delA

Surrounding Variants

14 papers

NM_007294.4

p.T1242A

c.3724A>G

1 paper

NM_007294.4

p.T1242P

c.3724A>C

1 paper

NM_007294.4

p.T1242_R1243insT

c.3724_3728ins3

1 paper

NM_007294.4

p.S1241fs

c.3721_3722fs

1 paper

NM_007294.4

p.S1241S

c.3723T>G

1 paper

NM_007294.4

p.S1241S

c.3723T>C

1 paper

NM_007294.4

p.Q1240_S1241delFs

c.3719_3722del4

1 paper

NM_007294.4

p.T1242I

c.3725C>T

1 paper

NM_007294.4

p.Q1240_T1242delFs

c.3720_3724del5

1 paper

NM_007294.4

p.T1242fs

c.3724_3725fs

1 paper

NM_007294.4

p.T1242T

c.3726T>C

1 paper

NM_007294.4

p.S1241F

c.3722C>T