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

44 papers

NM_007294.4

p.P1637L

c.4910C>T

Surrounding Variants

3 papers

NM_007294.4

p.P1637R

c.4910C>G

6 papers

NM_007294.4

p.P1637Q

c.4910C>A

7 papers

NM_007294.4

p.P1637S

c.4909C>T

3 papers

NM_007294.4

p.P1637A

c.4909C>G

3 papers

NM_007294.4

p.P1637T

c.4909C>A

1 paper

NM_007294.4

p.P1637fs

c.4909_4910fs

5 papers

NM_007294.4

p.P1637delFs

c.4910delG

4 papers

NM_007294.4

p.P1637fs

c.4909_4910fs

3 papers

NM_007294.4

p.K1636N

c.4908G>T

2 papers

NM_007294.4

p.E1638*

c.4912G>T

3 papers

NM_007294.4

p.E1638Q

c.4912G>C

3 papers

NM_007294.4

p.K1636N

c.4908G>C