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.L1741fs

c.5221_5222fs

Surrounding Variants

2 papers

NM_000051.4

p.L1741*

c.5222T>A

1 paper

NM_000051.4

p.L1741S

c.5222T>C

2 papers

NM_000051.4

p.L1741*

c.5222T>G

3 papers

NM_000051.4

p.L1741_A1742del2

c.5221_5225del6

1 paper

NM_000051.4

p.A1742del1

c.5224_5225delGCC

1 paper

NM_000051.4

p.I1740S

c.5219T>G

4 papers

NM_000051.4

p.I1740V

c.5218A>G

1 paper

NM_000051.4

p.I1740F

c.5218A>T

12 papers

NM_000051.4

p.A1742P

c.5224G>C

2 papers

NM_000051.4

p.A1742V

c.5225C>T

1 paper

NM_000051.4

p.N1739T

c.5216A>C

2 papers

NM_000051.4

p.N1739S

c.5216A>G