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

1–12 of 114 variants

3 papers

NM_015348.2

p.P1316L

c.3947C>T

3 papers

NM_015348.2

p.E1319Q

c.3955G>C

2 papers

NM_015348.2

p.L88P

c.263T>C

2 papers

NM_015348.2

p.T370M

c.1109C>T

2 papers

NM_015348.2

p.S1466fs

c.4396_4397fs

2 papers

NM_015348.2

p.A1770V

c.5309C>T

2 papers

NM_015348.2

p.V1791D

c.5372T>A

2 papers

NM_015348.2

p.A1842D

c.5525C>A

2 papers

NM_015348.2

p.R1869S

c.5607A>T

2 papers

NM_015348.2

p.R1869S

c.5607A>C

1 paper

NM_015348.2

p.M1K

c.2T>A

1 paper

NM_015348.2

p.R4R

c.12G>A