Varaico: Literature-Extracted Genetic Variants

EPS8L2

95 papers

RefSeq Summary

This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional red...

Pfam Domains

PTBaa 51–181UCSCPhosphotyrosine-binding domain

EPS8_2ndaa 254–407UCSCEPS8 spectrin-like domain

SH3_1aa 498–543UCSCSH3 domain

SAM_3aa 619–682UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

EPS8 signaling adaptor L2

HGNC Alias Symbols

FLJ21935; FLJ22171; MGC3088

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022772.4

p.F210L

c.628T>C

Surrounding Variants

1 paper

NM_022772.4

p.F210L

c.630C>A

1 paper

NM_022772.4

p.F210L

c.630C>G

1 paper

NM_022772.4

p.G214S

c.640G>A

3 papers

NM_022772.4

p.A206S

c.616G>T

1 paper

NM_022772.4

p.K221T

c.662A>C

1 paper

NM_022772.4

p.S197F

c.590C>T

1 paper

NM_022772.4

p.Q196K

c.586C>A

1 paper

NM_022772.4

p.R193Q

c.578G>A

1 paper

NM_022772.4

p.G234S

c.700G>A

1 paper

NM_022772.4

p.G234fs

c.700_701fs

1 paper

NM_022772.4

p.R236C

c.706C>T

1 paper

NM_022772.4

p.R237L

c.710G>T