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.L108P

c.323T>C

Surrounding Variants

1 paper

NM_018671.5

p.L108V

c.322C>G

4 papers

NM_018671.5

p.R98W

c.292C>T

NM_001039675.2

p.R83W

c.247C>T

1 paper

NM_018671.5

p.P123A

c.367C>G

1 paper

NM_018671.5

p.A81_S82ins10

c.241_245ins30

1 paper

NM_018671.5

p.R64Q

c.191G>A

1 paper

NM_018671.5

p.A52T

c.154G>A

1 paper

NM_018671.5

p.G49D

c.146G>A

1 paper

NM_018671.5

p.A40V

c.119C>T

1 paper

NM_018671.5

p.G35R

c.103G>A

1 paper

NM_018671.5

p.E30K

c.88G>A

1 paper

NM_018671.5

p.E27_G28insFs

c.81_82ins10

1 paper

NM_018671.5

p.P11L

c.32C>T