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

10 papers

NM_001013838.3

p.L372R

c.1115T>G

Surrounding Variants

1 paper

NM_001013838.3

p.S370*

c.1109C>A

1 paper

NM_001013838.3

p.G376fs

c.1126_1127fs

1 paper

NM_001013838.3

p.G376G

c.1128C>T

6 papers

NM_001013838.3

p.R385T

c.1154G>C

NM_001317026.3

p.T383_L384Splc

c.1149+5G>C

1 paper

NM_001013838.3

p.G357_G358Splc

c.1072-2A>T

1 paper

NM_001013838.3

p.T394T

c.1182C>A

1 paper

NM_001013838.3

p.G407G

c.1221T>C

1 paper

NM_001013838.3

p.L416fs

c.1246_1247fs

1 paper

NM_001013838.3

p.L416insFs

c.1248dupC

1 paper

NM_001013838.3

p.G357_G358Splc

c.1071+2T>A

3 papers

NM_001013838.3

p.G357_G358Splc

c.1071+1G>T

1 paper

NM_001013838.3

p.D355N

c.1063G>A