Varaico: Literature-Extracted Genetic Variants

TLN2

159 papers

RefSeq Summary

This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including ...

Pfam Domains

FERM_f0aa 4–85UCSCN-terminal or F0 domain of Talin-head FERM

FERM_Naa 92–141UCSCFERM N-terminal domain

FERM_Maa 203–316UCSCFERM central domain

IRSaa 316–403UCSCPTB domain (IRS-1 type)

Talin_middleaa 494–655UCSCTalin, middle domain

I_LWEQaa 661–766UCSCI/LWEQ domain

Gene Aliases

HGNC Name

talin 2

HGNC Alias Symbols

KIAA0320; ILWEQ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015059.3

p.R827H

c.2480G>A

Surrounding Variants

1 paper

NM_015059.3

p.R830Q

c.2489G>A

1 paper

NM_015059.3

p.G823Splc

c.2468-1G>A

1 paper

NM_015059.3

p.G823Splc

c.2468-1G>T

1 paper

NM_015059.3

p.A876V

c.2627C>T

1 paper

NM_015059.3

p.R800C

c.2398C>T

2 papers

NM_015059.3

p.R789W

c.2365C>T

2 papers

NM_015059.3

p.A773V

c.2318C>T

1 paper

NM_015059.3

p.S749W

c.2246C>G

1 paper

NM_015059.3

p.R748H

c.2243G>A

1 paper

NM_015059.3

p.L739P

c.2216T>C

1 paper

NM_015059.3

p.S732S

c.2196C>T

1 paper

NM_015059.3

p.E887K

c.2659G>A