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.Q1537insFs

c.4609_4610insCC

Surrounding Variants

3 papers

NM_007294.4

p.Q1537L

c.4610A>T

2 papers

NM_007294.4

p.Q1537R

c.4610A>G

15 papers

NM_007294.4

p.Q1537*

c.4609C>T

1 paper

NM_007294.4

p.Q1537H

c.4611A>T

1 paper

NM_007300.4

p.Q1558Q

c.4674A>G

2 papers

NM_007294.4

p.Q1537H

c.4611A>C

10 papers

NM_007294.4

p.Q1537_Q1538insFs

c.4611_4612insG

1 paper

NM_007294.4

p.Q1537fs

c.4609_4610fs

2 papers

NM_007294.4

p.E1536D

c.4608G>T

2 papers

NM_007294.4

p.E1536D

c.4608G>C

4 papers

NM_007294.4

p.Q1538fs

c.4612_4613fs

26 papers

NM_007294.4

p.Q1538*

c.4612C>T