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

3 papers

NM_015059.3

p.E1741*

c.5221G>T

Surrounding Variants

1 paper

NM_015059.3

p.D1756Y

c.5266G>T

1 paper

NM_015059.3

p.L1764L

c.5292G>A

1 paper

NM_015059.3

p.A1801T

c.5401G>A

1 paper

NM_015059.3

p.T1814M

c.5441C>T

1 paper

NM_015059.3

p.K1838_L1839Splc

c.5514+4G>A

1 paper

NM_015059.3

p.I1695I

c.5085C>T

1 paper

NM_015059.3

p.R1675W

c.5023C>T

1 paper

NM_015059.3

p.D1668N

c.5002G>A

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.G1659V

c.4976G>T

1 paper

NM_015059.3

p.A1657A

c.4971C>T