Varaico: Literature-Extracted Genetic Variants

TMEM132A

67 papers

RefSeq Summary

This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSe...

Pfam Domains

TMEM132_Naa 48–112UCSCTMEM132 N-terminal

Ig_TMEM132_2ndaa 122–229UCSCTMEM132 second Ig-like domain

TMEM132_3rdaa 246–396UCSCTMEM132 cohesin-like domain

Ig_TMEM132_4thaa 398–495UCSCTMEM132 fourth domain

Ig_TMEM132_5thaa 498–634UCSCTMEM132 fifth domain

Ig_TMEM132_6thaa 635–750UCSCTMEM132 sixth domain

Gene Aliases

HGNC Name

transmembrane protein 132A

HGNC Previous Symbol

HSPA5BP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178031.3

p.D701fs

c.2101_2102fs

Surrounding Variants

1 paper

NM_178031.3

p.V706I

c.2116G>A

1 paper

NM_178031.3

p.P716R

c.2147C>G

1 paper

NM_178031.3

p.G730E

c.2189G>A

1 paper

NM_178031.3

p.G732G

c.2196C>T

1 paper

NM_178031.3

p.G751D

c.2252G>A

1 paper

NM_178031.3

p.P768P

c.2304T>C

1 paper

NM_178031.3

p.A769P

c.2305G>C

1 paper

NM_178031.3

p.P784T

c.2350C>A

1 paper

NM_178031.3

p.P784S

c.2350C>T

1 paper

NM_178031.3

p.P785S

c.2353C>T

1 paper

NM_178031.3

p.E824K

c.2470G>A

3 papers

NM_178031.3

p.A825T

c.2473G>A