Varaico: Literature-Extracted Genetic Variants

Gene:TLN2
Variant:p.D1668N

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.D1668N
c.5002G>A
Surrounding Variants
1 paper
NM_015059.3
p.Y1665*
c.4995C>A
1 paper
NM_015059.3
p.Y1665*
c.4995C>G
1 paper
NM_015059.3
p.R1675W
c.5023C>T
1 paper
NM_015059.3
p.G1659V
c.4976G>T
1 paper
NM_015059.3
p.A1657A
c.4971C>T
1 paper
NM_015059.3
p.I1695I
c.5085C>T
2 papers
NM_015059.3
p.D1644N
c.4930G>A
1 paper
NM_015059.3
p.S1643S
c.4929C>T
2 papers
NM_015059.3
p.R1620C
c.4858C>T
1 paper
NM_015059.3
p.A1605S
c.4813G>T
1 paper
NM_015059.3
p.A1576A
c.4728G>A
1 paper
NM_015059.3
p.D1555A
c.4664A>C
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