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.V594delFs

c.1782delG

Surrounding Variants

1 paper

NM_015059.3

p.K592T

c.1775A>C

2 papers

NM_015059.3

p.T588M

c.1763C>T

1 paper

NM_015059.3

p.M601V

c.1801A>G

1 paper

NM_015059.3

p.M601L

c.1801A>T

1 paper

NM_015059.3

p.E604K

c.1810G>A

1 paper

NM_015059.3

p.G577_N586del10

c.1729_1757del30

1 paper

NM_015059.3

p.A555V

c.1664C>T

1 paper

NM_015059.3

p.D528N

c.1582G>A

1 paper

NM_015059.3

p.S521L

c.1562C>T

1 paper

NM_015059.3

p.S517R

c.1551T>A

1 paper

NM_015059.3

p.S517R

c.1551T>G

1 paper

NM_015059.3

p.S517R

c.1549A>C