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.Y2248H

c.6742T>C

Surrounding Variants

4 papers

NM_015059.3

p.R2239H

c.6716G>A

1 paper

NM_015059.3

p.D2231D

c.6693C>T

1 paper

NM_015059.3

p.T2159T

c.6477G>A

1 paper

NM_015059.3

p.R2142Q

c.6425G>A

1 paper

NM_015059.3

p.K2116Q

c.6346A>C

1 paper

NM_015059.3

p.F2266L

c.6796T>C

1 paper

NM_015059.3

p.F2266L

c.6798C>A

1 paper

NM_015059.3

p.F2266L

c.6798C>G

1 paper

NM_015059.3

p.D2109N

c.6325G>A

1 paper

NM_015059.3

p.D2108G

c.6323A>G

1 paper

NM_015059.3

p.R2276*

c.6826C>T

1 paper

NM_015059.3

p.A2278T

c.6832G>A