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.T358_V359insFs

c.1074_1075insC

Surrounding Variants

1 paper

NM_015059.3

p.P366S

c.1096C>T

1 paper

NM_015059.3

p.F369_T370delFs

c.1106_1110del5

1 paper

NM_015059.3

p.K346Q

c.1036A>C

1 paper

NM_015059.3

p.E345Q

c.1033G>C

1 paper

NM_015059.3

p.R342R

c.1026C>T

2 papers

NM_015059.3

p.S339L

c.1016C>T

1 paper

NM_015059.3

p.K337*

c.1009A>T

1 paper

NM_015059.3

p.K327Q

c.979A>C

1 paper

NM_015059.3

p.Y381C

c.1142A>G

1 paper

NM_015059.3

p.E387K

c.1159G>A

1 paper

NM_015059.3

p.I391T

c.1172T>C

1 paper

NM_015059.3

p.D400N

c.1198G>A