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

39 papers

NM_007294.4

p.Q1313*

c.3937C>T

Surrounding Variants

6 papers

NM_007294.4

p.Q1313insFs

c.3937_3938insG

1 paper

NM_007294.4

p.Q1313_D1314insTT

c.3937_3941ins6

8 papers

NM_007294.4

p.T1312T

c.3936C>T

1 paper

NM_007294.4

p.T1312fs

c.3934_3935fs

1 paper

NM_007294.4

p.T1310_N1311del2

c.3928_3932del6

8 papers

NM_007294.4

p.Q1313R

c.3938A>G

2 papers

NM_007294.4

p.Q1313P

c.3938A>C

6 papers

NM_007294.4

p.Q1313insFs

c.3938_3939insG

1 paper

NM_007294.4

p.Q1313H

c.3939G>T

2 papers

NM_007294.4

p.Q1313H

c.3939G>C

1 paper

NM_007294.4

p.T1312_Q1313delFs

c.3935_3938del4

2 papers

NM_007294.4

p.T1312S

c.3935C>G