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.L2077P

c.6230T>C

Surrounding Variants

3 papers

NM_000051.4

p.L2077I

c.6229C>A

3 papers

NM_000051.4

p.L2077fs

c.6229_6230fs

9 papers

NM_000051.4

p.L2077fs

c.6229_6230fs

1 paper

NM_000051.4

p.S2078P

c.6232T>C

1 paper

NM_000051.4

p.S2078F

c.6233C>T

2 papers

NM_000051.4

p.I2076N

c.6227T>A

1 paper

NM_000051.4

p.I2076T

c.6227T>C

1 paper

NM_000051.4

p.I2076S

c.6227T>G

1 paper

NM_000051.4

p.I2076fs

c.6226_6227fs

6 papers

NM_000051.4

p.I2076V

c.6226A>G

18 papers

NM_000051.4

p.I2076delFs

c.6228delT

1 paper

NM_000051.4

p.I2076fs

c.6226_6227fs