Varaico: Literature-Extracted Genetic Variants

TEX14

90 papers

RefSeq Summary

The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for...

Pfam Domains

Ank_2aa 27–143UCSCAnkyrin repeats (3 copies)

PK_Tyr_Ser-Thraa 262–509UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

testis expressed 14, intercellular bridge forming factor

HGNC Alias Symbols

CT113; SgK307

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_031272.5

p.L497P

c.1490T>C

Surrounding Variants

1 paper

NM_031272.5

p.R501Q

c.1502G>A

2 papers

NM_031272.5

p.I503T

c.1508T>C

1 paper

NM_031272.5

p.P475S

c.1423C>T

1 paper

NM_031272.5

p.V462I

c.1384G>A

1 paper

NM_031272.5

p.K451delFs

c.1351delT

1 paper

NM_031272.5

p.Q518*

c.1552C>T

1 paper

NM_031272.5

p.P532P

c.1596C>T

1 paper

NM_031272.5

p.R546*

c.1636A>T

1 paper

NM_001201457.2

p.I559M

c.1677C>G

1 paper

NM_031272.5

p.E420Q

c.1258G>C

1 paper

NM_031272.5

p.A418insFs

c.1254dupA

1 paper

NM_031272.5

p.W416*

c.1248G>A