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.Q1765P

c.5294A>C

Surrounding Variants

2 papers

NM_000051.4

p.Q1765R

c.5294A>G

5 papers

NM_000051.4

p.Q1765*

c.5293C>T

1 paper

NM_000051.4

p.Q1765fs

c.5293_5294fs

1 paper

NM_000051.4

p.P1766A

c.5296C>G

2 papers

NM_000051.4

p.P1766S

c.5296C>T

2 papers

NM_000051.4

p.P1766L

c.5297C>T

1 paper

NM_000051.4

p.F1767delFs

c.5301delT

1 paper

NM_000051.4

p.L1764P

c.5291T>C

1 paper

NM_000051.4

p.L1764I

c.5290C>A

7 papers

NM_000051.4

p.L1764fs

c.5290_5291fs

1 paper

NM_000051.4

p.L1764V

c.5290C>G

5 papers

NM_000051.4

p.L1764fs

c.5290_5291fs