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

3 papers

NM_178031.3

p.P970L

c.2909C>T

Surrounding Variants

1 paper

NM_178031.3

p.A969V

c.2906C>T

1 paper

NM_178031.3

p.G943D

c.2828G>A

1 paper

NM_178031.3

p.G942E

c.2825G>A

1 paper

NM_178031.3

p.R1018G

c.3052A>G

1 paper

NM_178031.3

p.I1019V

c.3055A>G

1 paper

NM_178031.3

p.S1022N

c.3065G>A

2 papers

NM_178031.3

p.L898L

c.2694G>T

2 papers

NM_178031.3

p.D882N

c.2644G>A

1 paper

NM_178031.3

p.V859M

c.2575G>A

1 paper

NM_178031.3

p.E831del1

c.2491_2492delGAA

3 papers

NM_178031.3

p.A825T

c.2473G>A

1 paper

NM_178031.3

p.E824K

c.2470G>A