Varaico: Literature-Extracted Genetic Variants

XIRP1

468 papers

RefSeq Summary

The protein encoded by this gene is a striated muscle protein and belongs to the Xin actin-binding repeat-containing protein (XIRP) family. The protein functions to protect actin filaments during depo...

Pfam Domains

Xinaa 89–104UCSCXin repeat

Xinaa 151–166UCSCXin repeat

Xinaa 186–201UCSCXin repeat

Xinaa 266–279UCSCXin repeat

Xinaa 302–317UCSCXin repeat

Xinaa 376–391UCSCXin repeat

Gene Aliases

HGNC Name

xin actin binding repeat containing 1

HGNC Previous Symbol

CMYA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_194293.4

p.N1432S

c.4295A>G

Surrounding Variants

1 paper

NM_194293.4

p.P1435S

c.4303C>T

1 paper

NM_194293.4

p.Q1439R

c.4316A>G

1 paper

NM_194293.4

p.W1440R

c.4318T>C

1 paper

NM_194293.4

p.W1440R

c.4318T>A

2 papers

NM_194293.4

p.E1424G

c.4271A>G

1 paper

NM_194293.4

p.G1441D

c.4322G>A

1 paper

NM_194293.4

p.G1443S

c.4327G>A

1 paper

NM_194293.4

p.Q1414E

c.4240C>G

1 paper

NM_194293.4

p.N1413K

c.4239T>G

1 paper

NM_194293.4

p.N1413K

c.4239T>A

1 paper

NM_194293.4

p.G1452R

c.4354G>C

1 paper

NM_194293.4

p.G1452S

c.4354G>A