Varaico: Literature-Extracted Genetic Variants

Gene:TLN2
Variant:p.F2266L

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.F2266L
c.6796T>C
Surrounding Variants
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.R2276*
c.6826C>T
1 paper
NM_015059.3
p.A2278T
c.6832G>A
1 paper
NM_015059.3
p.A2280T
c.6838G>A
1 paper
NM_015059.3
p.Y2248H
c.6742T>C
4 papers
NM_015059.3
p.R2239H
c.6716G>A
1 paper
NM_015059.3
p.D2231D
c.6693C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."