Varaico: Literature-Extracted Genetic Variants

UNC45A

74 papers

RefSeq Summary

This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded p...

Pfam Domains

TPR_16aa 25–92UCSCTetratricopeptide repeat

TPR_8aa 92–125UCSCTetratricopeptide repeat

UNC45-centralaa 313–530UCSCMyosin-binding striated muscle assembly central

Gene Aliases

HGNC Name

unc-45 myosin chaperone A

HGNC Alias Symbols

SMAP-1; GC-UNC45

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018671.5

p.K274N

c.822A>T

Surrounding Variants

1 paper

NM_018671.5

p.K274N

c.822A>C

1 paper

NM_018671.5

p.F276insFs

c.827dupT

2 papers

NM_001039675.2

p.R262*

c.784C>T

1 paper

NM_018671.5

p.L268F

c.802C>T

3 papers

NM_018671.5

p.Q262*

c.784C>T

1 paper

NM_018671.5

p.A257T

c.769G>A

1 paper

NM_018671.5

p.A252_V253delFs

c.756_757delTG

1 paper

NM_018671.5

p.Q251E

c.751C>G

2 papers

NM_018671.5

p.R241*

c.721C>T

6 papers

NM_018671.5

p.L237P

c.710T>C

1 paper

NM_018671.5

p.A232A

c.696A>T

2 papers

NM_018671.5

p.T230R

c.689C>G