Varaico: Literature-Extracted Genetic Variants

TDRD7

317 papers

RefSeq Summary

The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA proc...

Pfam Domains

OST-HTHaa 5–72UCSCOST-HTH/LOTUS domain

OST-HTHaa 233–272UCSCOST-HTH/LOTUS domain

TUDORaa 459–581UCSCTudor domain

TUDORaa 648–775UCSCTudor domain

TUDORaa 908–1026UCSCTudor domain

Gene Aliases

HGNC Name

tudor domain containing 7

HGNC Alias Symbol

PCTAIRE2BP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 185 variants

6 papers

NM_014290.3

p.V150A

c.449T>C

5 papers

NM_014290.3

p.V618del1

c.1852_1853delGTT

4 papers

NM_014290.3

p.K108_K109insFs

c.324_325insA

4 papers

NM_014290.3

p.Y230insFs

c.688_689insA

4 papers

NM_014290.3

p.Y230*

c.690C>A

4 papers

NM_014290.3

p.Y230*

c.690C>G

4 papers

NM_014290.3

p.P324_K325insA

c.970_974ins3

4 papers

NM_014290.3

p.D688_Y689insA

c.2062_2066ins3

3 papers

NM_014290.3

p.L11L

c.33A>G

3 papers

NM_014290.3

p.S65T

c.194G>C

3 papers

NM_014290.3

p.T110fs

c.328_329fs

3 papers

NM_014290.3

p.P362L

c.1085C>T