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.S1981R

c.5941A>C

Surrounding Variants

1 paper

NM_000051.4

p.S1981fs

c.5941_5942fs

1 paper

NM_000051.4

p.S1981C

c.5941A>T

1 paper

NM_000051.4

p.S1981N

c.5942G>A

1 paper

NM_000051.4

p.S1981delFs

c.5943delC

1 paper

NM_000051.4

p.S1981R

c.5943C>A

1 paper

NM_000051.4

p.S1981R

c.5943C>G

1 paper

NM_000051.4

p.S1981S

c.5943C>T

1 paper

NM_000051.4

p.G1980E

c.5939G>A

1 paper

NM_000051.4

p.G1980A

c.5939G>C

1 paper

NM_000051.4

p.G1980V

c.5939G>T

1 paper

NM_000051.4

p.Q1982K

c.5944C>A

6 papers

NM_000051.4

p.Q1982*

c.5944C>T