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

1–12 of 195 variants

5 papers

NM_015059.3

p.V2445L

c.7333G>T

4 papers

NM_015059.3

p.R2239H

c.6716G>A

4 papers

NM_015059.3

p.V2445L

c.7333G>C

3 papers

NM_015059.3

p.R93W

c.277C>T

3 papers

NM_015059.3

p.E1741*

c.5221G>T

2 papers

NM_015059.3

p.T135I

c.404C>T

2 papers

NM_015059.3

p.S339L

c.1016C>T

2 papers

NM_015059.3

p.T588M

c.1763C>T

2 papers

NM_015059.3

p.A773V

c.2318C>T

2 papers

NM_015059.3

p.R789W

c.2365C>T

2 papers

NM_015059.3

p.R827H

c.2480G>A

2 papers

NM_015059.3

p.R1620C

c.4858C>T