Varaico: Literature-Extracted Genetic Variants

OBSL1

283 papers

RefSeq Summary

Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin fa...

Pfam Domains

I-setaa 12–101UCSCImmunoglobulin I-set domain

I-setaa 128–226UCSCImmunoglobulin I-set domain

I-setaa 248–336UCSCImmunoglobulin I-set domain

I-setaa 341–426UCSCImmunoglobulin I-set domain

I-setaa 720–795UCSCImmunoglobulin I-set domain

Ig_3aa 804–882UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

obscurin like cytoskeletal adaptor 1

HGNC Alias Symbol

KIAA0657

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015311.3

p.E1120_L1129del10

c.3358_3386del30

Surrounding Variants

1 paper

NM_015311.3

p.E1132fs

c.3394_3395fs

1 paper

NM_015311.3

p.E1132delFs

c.3395delT

1 paper

NM_015311.3

p.L1127delFs

c.3379_3380delAG

1 paper

NM_015311.3

p.L1129_E1132del4

c.3385_3395del12

1 paper

NM_015311.3

p.G1130_G1133delFs

c.3388_3397del10

1 paper

NM_015311.3

p.A1143T

c.3427G>A

6 papers

NM_015311.3

p.W1114*

c.3342G>A

7 papers

NM_015311.3

p.W1114*

c.3341G>A

3 papers

NM_015311.3

p.R1113C

c.3337C>T

1 paper

NM_015311.3

p.A1148V

c.3443C>T

2 papers

NM_015311.3

p.G1149R

c.3445G>C

2 papers

NM_015311.3

p.G1149R

c.3445G>A