Varaico: Literature-Extracted Genetic Variants

RSPH1

97 papers

RefSeq Summary

This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and te...

Pfam Domains

MORNaa 26–43UCSCMORN repeat

MORNaa 44–66UCSCMORN repeat

MORNaa 67–89UCSCMORN repeat

MORNaa 90–112UCSCMORN repeat

MORNaa 113–134UCSCMORN repeat

MORNaa 137–152UCSCMORN repeat

Gene Aliases

HGNC Name

radial spoke head component 1

HGNC Previous Symbol

TSGA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_080860.4

p.H154P

c.461A>C

Surrounding Variants

1 paper

NM_080860.4

p.H157Q

c.471C>G

1 paper

NM_080860.4

p.H157Q

c.471C>A

1 paper

NM_080860.4

p.A150A

c.450C>T

3 papers

NM_080860.4

p.Q145*

c.433C>T

1 paper

NM_080860.4

p.N167_P168Splc

c.501+7C>T

4 papers

NM_080860.4

p.K136_Y137delFs

c.407_410del4

3 papers

NM_080860.4

p.K136fs

c.406_407fs

1 paper

NM_080860.4

p.G134D

c.401G>A

1 paper

NM_080860.4

p.A131A

c.393G>A

1 paper

NM_080860.4

p.A131T

c.391G>A

1 paper

NM_080860.4

p.G126_T127delFs

c.378_379delTG

1 paper

NM_080860.4

p.G126R

c.376G>C