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

2 papers

NM_000051.4

p.F1463delFs

c.4388delT

Surrounding Variants

2 papers

NM_000051.4

p.A1462V

c.4385C>T

1 paper

NM_000051.4

p.F1463I

c.4387T>A

1 paper

NM_000051.4

p.F1463fs

c.4387_4388fs

1 paper

NM_000051.4

p.A1462P

c.4384G>C

1 paper

NM_000051.4

p.A1462delFs

c.4385_4386delCC

2 papers

NM_000051.4

p.F1463S

c.4388T>C

62 papers

NM_000051.4

p.F1463C

c.4388T>G

1 paper

NM_000051.4

p.F1463insFs

c.4388_4389ins7

6 papers

NM_000051.4

p.W1461*

c.4383G>A

1 paper

NM_000051.4

p.W1461C

c.4383G>C

1 paper

NM_000051.4

p.W1461C

c.4383G>T

6 papers

NM_000051.4

p.W1461*

c.4382G>A