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

1 paper

NM_001013838.3

p.H551delFs

c.1652_1653delAT

Surrounding Variants

1 paper

NM_001013838.3

p.H551fs

c.1651_1652fs

1 paper

NM_001317026.3

p.R520fs

c.1558_1559fs

1 paper

NM_001013838.3

p.G544V

c.1631G>T

1 paper

NM_001013838.3

p.V560I

c.1678G>A

1 paper

NM_001317026.3

p.C526fs

c.1576_1577fs

1 paper

NM_001317026.3

p.C526W

c.1578C>G

1 paper

NM_001317026.3

p.C526C

c.1578C>T

2 papers

NM_001013838.3

p.L539delFs

c.1615_1616delCT

1 paper

NM_001317026.3

p.K527Splc

c.1581-1G>A

11 papers

NM_001013838.3

p.Q575E

c.1723C>G

1 paper

NM_001317026.3

p.M541R

c.1622T>G

7 papers

NM_001013838.3

p.N530K

c.1590C>A

NM_001317026.3

p.N494K

c.1482C>A