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.T1507S

c.4520C>G

Surrounding Variants

2 papers

NM_000051.4

p.T1507I

c.4520C>T

2 papers

NM_000051.4

p.T1507A

c.4519A>G

2 papers

NM_000051.4

p.T1507S

c.4519A>T

1 paper

NM_000051.4

p.V1506_T1507insFs

c.4518_4519ins29

3 papers

NM_000051.4

p.Y1508insFs

c.4523dupA

1 paper

NM_000051.4

p.Y1508fs

c.4522_4523fs

1 paper

NM_000051.4

p.Y1508S

c.4523A>C

1 paper

NM_000051.4

p.V1506delFs

c.4518delG

5 papers

NM_000051.4

p.Y1508*

c.4524C>A

1 paper

NM_000051.4

p.Y1508_C1509insFs

c.4524_4525insA

5 papers

NM_000051.4

p.Y1508*

c.4524C>G

4 papers

NM_000051.4

p.V1506M

c.4516G>A