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.S1076N

c.3227G>A

Surrounding Variants

1 paper

NM_015059.3

p.S1076R

c.3226A>C

1 paper

NM_015059.3

p.S1076R

c.3228C>A

1 paper

NM_015059.3

p.S1076R

c.3228C>G

1 paper

NM_015059.3

p.L1078L

c.3232C>T

1 paper

NM_015059.3

p.A1069V

c.3206C>T

1 paper

NM_015059.3

p.T1058M

c.3173C>T

1 paper

NM_015059.3

p.P1049A

c.3145C>G

1 paper

NM_015059.3

p.A1099V

c.3296C>T

1 paper

NM_015059.3

p.S1102F

c.3305C>T

1 paper

NM_015059.3

p.Q1106_C1110del5

c.3316_3329del15

1 paper

NM_015059.3

p.A1009T

c.3025G>A

1 paper

NM_015059.3

p.L996H

c.2987T>A