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.L2760V

c.8278C>G

Surrounding Variants

1 paper

NM_000051.4

p.L2760_S2761insA

c.8278_8282ins3

1 paper

NM_000051.4

p.L2760F

c.8278C>T

7 papers

NM_000051.4

p.L2760delFs

c.8278_8279delCT

2 papers

NM_000051.4

p.S2761_Q2762delFs

c.8281_8284del4

1 paper

NM_000051.4

p.L2760P

c.8279T>C

3 papers

NM_000051.4

p.P2759L

c.8276C>T

2 papers

NM_000051.4

p.P2759A

c.8275C>G

3 papers

NM_000051.4

p.P2759S

c.8275C>T

1 paper

NM_000051.4

p.L2760delFs

c.8278delC

3 papers

NM_000051.4

p.Q2762fs

c.8284_8285fs

9 papers

NM_000051.4

p.Q2762*

c.8284C>T

1 paper

NM_000051.4

p.Q2762fs

c.8284_8285fs