Varaico: Literature-Extracted Genetic Variants

PBRM1

847 papers

RefSeq Summary

This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcription...

Pfam Domains

Bromodomainaa 54–139UCSCBromodomain

Bromodomainaa 186–275UCSCBromodomain

Bromodomainaa 392–475UCSCBromodomain

Bromodomainaa 537–613UCSCBromodomain

Bromodomainaa 666–751UCSCBromodomain

Bromodomainaa 786–867UCSCBromodomain

Gene Aliases

HGNC Name

polybromo 1

HGNC Alias Symbols

BAF180; PB1; SMARCH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001405607.1

p.A249V

c.746C>T

Surrounding Variants

1 paper

NM_001405607.1

p.A249T

c.745G>A

1 paper

NM_001405607.1

p.M248fs

c.742_743fs

1 paper

NM_001405607.1

p.S241_K250delFs

c.722_749del28

1 paper

NM_001405607.1

p.A247V

c.740C>T

1 paper

NM_001405607.1

p.D251fs

c.751_752fs

3 papers

NM_001405607.1

p.I252R

c.755T>G

4 papers

NM_001405607.1

p.I252T

c.755T>C

1 paper

NM_001405607.1

p.H246D

c.736C>G

2 papers

NM_001405607.1

p.D253N

c.757G>A

1 paper

NM_001405607.1

p.D251_I252delFs

c.753_756del4

2 papers

NM_001405607.1

p.I245F

c.733A>T

4 papers

NM_001405607.1

p.L254P

c.761T>C