Varaico: Literature-Extracted Genetic Variants

CIMAP1A

23 papers

RefSeq Summary

ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004].

Pfam Domains

SHIPPO-rptaa 100–131UCSCSperm-tail PG-rich repeat

SHIPPO-rptaa 136–170UCSCSperm-tail PG-rich repeat

SHIPPO-rptaa 179–209UCSCSperm-tail PG-rich repeat

SHIPPO-rptaa 215–245UCSCSperm-tail PG-rich repeat

Gene Aliases

HGNC Name

ciliary microtubule associated protein 1A

HGNC Previous Symbol

ODF3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_053280.5

p.Y114H

c.340T>C

Surrounding Variants

1 paper

NM_053280.5

p.H122N

c.364C>A

1 paper

NM_053280.5

p.R132Q

c.395G>A

1 paper

NM_053280.5

p.T136N

c.407C>A

1 paper

NM_053280.5

p.A141V

c.422C>T

1 paper

NM_053280.5

p.M143V

c.427A>G

1 paper

NM_053280.5

p.P145P

c.435C>T

1 paper

NM_053280.5

p.Q158fs

c.472_473fs

1 paper

NM_053280.5

p.Q158insFs

c.474dupG

1 paper

NM_053280.5

p.S167N

c.500G>A

1 paper

NM_053280.5

p.G170R

c.508G>C

1 paper

NM_053280.5

p.S173R

c.517A>C

1 paper

NM_053280.5

p.S173R

c.519C>A