Varaico: Literature-Extracted Genetic Variants

TMEM131

2q11.2 (UCSC)OMIM GTEx

103 papers

Pfam Domains

TMEM131_like_Naa 108–191UCSCTransmembrane protein 131-like N-terminal

Ig_TMEM131_2aa 209–298UCSCTransmembrane protein 131 second Ig-like domain

Ig_TMEM131L_2ndaa 333–395UCSCTransmembrane protein 131-like, second Ig-like domain

Ig_TMEM131L_3aa 436–535UCSCTMEM131L third Ig-like domain

Ig_TMEM131L_4aa 836–973UCSCTMEM131L fourth Ig-like domain

Ig_TMEM131L_5aa 1023–1088UCSCTMEM131L fifth Ig-like domain

Gene Aliases

HGNC Name

transmembrane protein 131

HGNC Alias Symbols

CC28; YR-23; RW1; KIAA0257; PRO1048

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015348.2

p.L1765F

c.5293C>T

Surrounding Variants

2 papers

NM_015348.2

p.A1770V

c.5309C>T

1 paper

NM_015348.2

p.S1746S

c.5238G>A

1 paper

NM_015348.2

p.P1716S

c.5146C>T

1 paper

NM_015348.2

p.T1789_S1790Splc

c.5368-19G>A

2 papers

NM_015348.2

p.V1791D

c.5372T>A

1 paper

NM_015348.2

p.P1803Q

c.5408C>A

1 paper

NM_015348.2

p.S1815S

c.5445C>T

1 paper

NM_015348.2

p.T1820N

c.5459C>A

2 papers

NM_015348.2

p.A1842D

c.5525C>A

1 paper

NM_015348.2

p.D1851H

c.5551G>C

1 paper

NM_015348.2

p.W1859S

c.5576G>C

1 paper

NM_015348.2

p.R1860Q

c.5579G>A