Varaico: Literature-Extracted Genetic Variants

THAP9

4q21.22 (UCSC)OMIM GTEx

51 papers

Pfam Domains

THAPaa 5–89UCSCTHAP domain

Tnp_P_elementaa 173–245UCSCTransposable element P transposase-like, HTH domain

TNP-like_RNaseH_Naa 251–387UCSCTNP-like, RNase H N-terminal domain

TNP-like_GBDaa 416–534UCSCTNP-like, GTP-binding insertion domain

TNP-like_RNaseH_Caa 605–639UCSCTNP-like, RNase H C-terminal domain

THAP9_Caa 700–853UCSCDNA transposase THAP9, C-terminal domain

Gene Aliases

HGNC Name

THAP domain containing 9

HGNC Alias Symbol

FLJ34093

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

5 papers

NM_024672.6

p.L299F

c.897G>C

5 papers

NM_024672.6

p.L299F

c.897G>T

3 papers

NM_024672.6

p.I716L

c.2146A>C

2 papers

NM_024672.6

p.E776V

c.2327A>T

2 papers

NM_024672.6

p.L799I

c.2395C>A

1 paper

NM_024672.6

p.R3*

c.7C>T

1 paper

NM_024672.6

p.S6Y

c.17C>A

1 paper

NM_024672.6

p.T15T

c.45C>T

1 paper

NM_024672.6

p.L23_S24delFs

c.68_71del4

1 paper

NM_024672.6

p.Q27Splc

c.80+299G>A

1 paper

NM_024672.6

p.V42L

c.124G>C

1 paper

NM_024672.6

p.P47fs

c.139_140fs