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

1–12 of 148 variants

6 papers

NM_018671.5

p.L237P

c.710T>C

4 papers

NM_018671.5

p.E728K

c.2182G>A

4 papers

NM_018671.5

p.A838P

c.2512G>C

3 papers

NM_018671.5

p.Q262*

c.784C>T

3 papers

NM_018671.5

p.D484fs

c.1450_1451fs

3 papers

NM_018671.5

p.D484Fs

c.1452delinsGCAFs

3 papers

NM_018671.5

p.R819*

c.2455C>T

2 papers

NM_001039675.2

p.R83W

c.247C>T

2 papers

NM_018671.5

p.R98W

c.292C>T

2 papers

NM_018671.5

p.T230R

c.689C>G

2 papers

NM_018671.5

p.R241*

c.721C>T

2 papers

NM_001039675.2

p.R262*

c.784C>T