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

1 paper

NM_015059.3

p.R2455K

c.7364G>A

Surrounding Variants

1 paper

NM_015059.3

p.E2452G

c.7355A>G

4 papers

NM_015059.3

p.V2445L

c.7333G>C

5 papers

NM_015059.3

p.V2445L

c.7333G>T

1 paper

NM_015059.3

p.A2434D

c.7301C>A

1 paper

NM_015059.3

p.D2386D

c.7158C>T

1 paper

NM_015059.3

p.N2383D

c.7147A>G

1 paper

NM_015059.3

p.P2381A

c.7141C>G

1 paper

NM_015059.3

p.L2340V

c.7018C>G

1 paper

NM_015059.3

p.R2466T

c.7397G>C

1 paper

NM_015059.3

p.L2471F

c.7411C>T

1 paper

NM_015059.3

p.R2473C

c.7417C>T

1 paper

NM_015059.3

p.V2495fs

c.7483_7484fs