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.W266_T267delFs

c.798_799delGA

Surrounding Variants

10 papers

NM_000051.4

p.W266*

c.797G>A

2 papers

NM_000051.4

p.W266L

c.797G>T

7 papers

NM_000051.4

p.W266*

c.798G>A

1 paper

NM_000051.4

p.W266R

c.796T>A

1 paper

NM_000051.4

p.W266R

c.796T>C

2 papers

NM_000051.4

p.W266delFs

c.797delG

1 paper

NM_000051.4

p.W266fs

c.796_797fs

1 paper

NM_000051.4

p.T267A

c.799A>G

2 papers

NM_000051.4

p.T267S

c.799A>T

2 papers

NM_000051.4

p.I265I

c.795T>A

1 paper

NM_000051.4

p.T267S

c.800C>G

1 paper

NM_000051.4

p.T267I

c.800C>T