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.P453P

c.1359G>A

Surrounding Variants

1 paper

NM_015059.3

p.A451V

c.1352C>T

1 paper

NM_015059.3

p.R457H

c.1370G>A

1 paper

NM_015059.3

p.K444*

c.1330A>T

1 paper

NM_015059.3

p.T465S

c.1393A>T

1 paper

NM_015059.3

p.T465S

c.1394C>G

1 paper

NM_015059.3

p.V468I

c.1402G>A

1 paper

NM_015059.3

p.K431N

c.1293G>C

1 paper

NM_015059.3

p.K431Splc

c.1293-6C>T

1 paper

NM_015059.3

p.Q482H

c.1446G>C

1 paper

NM_015059.3

p.Q482H

c.1446G>T

1 paper

NM_015059.3

p.M483R

c.1448T>G

1 paper

NM_015059.3

p.Q510Q

c.1530G>A