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.N723S

c.2168A>G

Surrounding Variants

1 paper

NM_007294.4

p.N723T

c.2168A>C

1 paper

NM_007294.4

p.N723fs

c.2167_2168fs

1 paper

NM_007294.4

p.N723K

c.2169T>G

1 paper

NM_007294.4

p.N723K

c.2169T>A

6 papers

NM_007294.4

p.N723delFs

c.2167delT

1 paper

NM_007294.4

p.N723delFs

c.2167_2168delTT

2 papers

NM_007294.4

p.N723fs

c.2167_2168fs

1 paper

NM_007294.4

p.K719_N723delFs

c.2155_2168del14

43 papers

NM_007294.4

p.N723D

c.2167A>G

2 papers

NM_007294.4

p.V722delFs

c.2166delG

2 papers

NM_007294.4

p.P724fs

c.2170_2171fs

4 papers

NM_007294.4

p.V722V

c.2166C>T