Varaico: Literature-Extracted Genetic Variants

CARMIL2

152 papers

RefSeq Summary

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein an...

Pfam Domains

Carm_PHaa 34–120UCSCCarmil pleckstrin homology domain

LRR_6aa 607–630UCSCLeucine Rich repeat

CARMIL_Caa 819–1112UCSCCARMIL C-terminus

Gene Aliases

HGNC Name

capping protein regulator and myosin 1 linker 2

HGNC Previous Symbol

RLTPR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001013838.3

p.R640Splc

c.1920-7G>A

NM_001317026.3

p.R604Splc

c.1812-7G>A

Surrounding Variants

1 paper

NM_001317026.3

p.S605fs

c.1813_1814fs

1 paper

NM_001013838.3

p.V642fs

c.1924_1925fs

2 papers

NM_001317026.3

p.D609N

c.1825G>A

NM_001013838.3

p.D645N

c.1933G>A

1 paper

NM_001013838.3

p.D645E

c.1935C>A

1 paper

NM_001013838.3

p.D645E

c.1935C>G

1 paper

NM_001013838.3

p.H648delFs

c.1942delC

2 papers

NM_001317026.3

p.H612fs

c.1834_1835fs

NM_001013838.3

p.H648fs

c.1942_1943fs

1 paper

NM_001317026.3

p.L619P

c.1856T>C

3 papers

NM_001317026.3

p.A622V

c.1865C>T

NM_001013838.3

p.A658V

c.1973C>T

1 paper

NM_001317026.3

p.L625P

c.1874T>C

1 paper

NM_001317026.3

p.L636fs

c.1906_1907fs

1 paper

NM_001013838.3

p.D676G

c.2027A>G