Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.N1937S

c.5810A>G

Surrounding Variants

1 paper

NM_000051.4

p.N1937fs

c.5809_5810fs

1 paper

NM_000051.4

p.N1937delFs

c.5810_5811delAT

2 papers

NM_000051.4

p.L1936F

c.5808A>C

2 papers

NM_000051.4

p.L1936F

c.5808A>T

1 paper

NM_000051.4

p.Y1938N

c.5812T>A

1 paper

NM_000051.4

p.Y1938D

c.5812T>G

2 papers

NM_000051.4

p.Y1938C

c.5813A>G

1 paper

NM_000051.4

p.L1936*

c.5807T>A

3 papers

NM_000051.4

p.L1936S

c.5807T>C

1 paper

NM_000051.4

p.L1936*

c.5807T>G

2 papers

NM_000051.4

p.Y1938*

c.5814T>A

2 papers

NM_000051.4

p.Y1938*

c.5814T>G