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.F570L

c.1710T>G

Surrounding Variants

1 paper

NM_000051.4

p.F570L

c.1710T>A

7 papers

NM_000051.4

p.F570S

c.1709T>C

1 paper

NM_000051.4

p.S571P

c.1711T>C

1 paper

NM_000051.4

p.S571fs

c.1711_1712fs

1 paper

NM_000051.4

p.S571fs

c.1711_1712fs

1 paper

NM_000051.4

p.S571_M577delFs

c.1711_1730del20

3 papers

NM_000051.4

p.S571Y

c.1712C>A

1 paper

NM_000051.4

p.S571C

c.1712C>G

2 papers

NM_000051.4

p.S571F

c.1712C>T

2 papers

NM_000051.4

p.S571delFs

c.1713delT

1 paper

NM_000051.4

p.F570L

c.1708T>C

1 paper

NM_000051.4

p.S569R

c.1707C>A